المساعد الشخصي الرقمي

مشاهدة النسخة كاملة : Atlas of developmental and genetic dental diseases


نور العين
23-04-2011, 09:21 PM
بسم الله الرحمن الرحيم
هناك العديد من المتلازمات التي يصاحبها اعراض تظهر في الوجه والفم (الفكين)
اولا : ساقوم بذكرها ومن ثم ساقوم بذكر بعض التفاصيل لكل متلازمه
حتى تتوسع معلوماتنا و معارفنا
ولكن ستكون باللغه الانجليزيه لانها اللغه التي يستخدمها اغلب اطباء العالم
* Acrocallosal syndrome
* Acroosteolysis with osteoporosis and changes in skull and mandible
* ADULT syndrome
* Amelogenesis imperfecta
* Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1
* Amelogenesis imperfecta, hypoplastic type, IG
* Amelogenesis imperfecta 1, hypoplastic type
* Amelogenesis imperfecta 2, hypoplastic local, autosomal dominant
* Amelogenesis imperfecta, pigmented hypomaturation type
* Amelogenesis imperfecta, type IB
* Amelogenesis imperfecta, type IC
* Anauxetic dysplasia
* Apert syndrome - Dental anomalies
* Axenfeld-Rieger syndrome, type 1
* Brittle cornea syndrome
* Burkitt lymphoma
* Cherubism - Dental anomalies
* Cleft lip / cleft palate - Dental anomalies
* Cleidocranial dysplasia - Dental anomalies
* Cornelia de Lange syndrome
* Cowden disease - Dental anomalies
* Crouzon syndrome
* Cytomegalovirus infection, congenital
* Deafness, congenital, with inner ear agenesis, microtia, and microdontia
* Dens invaginatus
* Dental ectopia
* Dental transposition
* Dentin dysplasia, type I
* Dentin dysplasia, type II
* Dentinogenesis imperfecta
* Dentinogenesis imperfecta 1
* Dubowitz syndrome
* Duchenne muscular dystrophy
* Ectodermal dysplasia, hypohidrotic, autosomal dominant
* Ectodermal dysplasia, hypohidrotic, autosomal recessive
* Ectodermal dysplasia, hypohidrotic, with immune deficiency
* Ectodermal dysplasia, hypohidrotic, X-linked - Dental anomalies
* EEC syndrome
* EEM syndrome
* Ellis-van Creveld syndrome - Dental anomalies
* Epidermolysis bullosa, junctional, non-Herlitz type
* Fibromatosis, gingival
* Fibromatosis, gingival, 1
* Frontonasal dysplasia
* GAPO syndrome
* Glanzmann thrombasthenia - Dental anomalies
* Goldenhar syndrome - Dental anomalies
* Gorlin syndrome
* Griscelli syndrome - Dental anomalies
* Haim-Munk syndrome
* Hay-Wells syndrome
* Hyalinosis, infantile systemic
* Hyperdontia
* Hypodontia
* Hypophosphatasia
* Hypophosphatasia, infantile
* Incontinentia pigmenti
* Kabuki syndrome
* Klippel-Trenaunay-***er syndrome
* Laugier-Hunziker syndrome
* Marfan syndrome
* Microphthalmia, syndromic 2
* Naegeli-Franceschetti-Jadassohn syndrome
* Nance-Horan syndrome
* Noonan syndrome
* Oculodentodigital dysplasia
* Oligodontia
* Oligodontia-colorectal cancer syndrome
* Osteogenesis imperfecta
* Osteopetrosis, autosomal recessive
* Papillon-Lefevre syndrome - Dental anomalies
* Parry-Romberg syndrome
* Porphyria cutanea tarda
* Primary failure of eruption
* Pseudohypoparathyroidism, type Ia
* Pyknodysostosis
* Pyle disease
* Regional odontodysplasia
* Robinow syndrome
* Sickle cell anemia - Dental anomalies
* Split-hand/foot malformation with sensorineural hearing loss
* Sturge-***er syndrome - Dental anomalies
* Syngnathia
* Syphilis, congenital
* Talon cusp
* Teeth present at birth
* Tooth agenesis, selective, 1
* Tooth agenesis, selective, 2
* Tooth agenesis, selective, 3
* Treacher Collins syndrome
* Trichodentoosseous syndrome
* Trichorhinophalangeal syndrome, type I
* Trisomy 21 - Dental anomalies
* Tuberous sclerosis - Dental anomalies
* Van der Woude syndrome
* Walker-Warburg syndrome
* White sponge nevus of Cannon
* Williams-Beuren syndrome
* Witkop syndrome
* Wolf-Hirschhorn syndrome
* Xanthinuria, type II
ارجــــــــــــــــــــ :) عدم وضع ردود :)ـــــــــــــــــــــــــــــو

نور العين
23-04-2011, 09:27 PM
Acrocallosal syndrome


other ****s*
Gene map locus 7p13
ACLS
Acrocallosal syndrome, Schinzel type
Hallux duplication, postaxial polydactyly, and absence of corpus callosum
Schinzel acrocallosal syndrome.

Clinical features:
mental retardation; agenesis of corpus callosum; distal limb anomalies

Inheritance:
autosomal recessive.




http://www.jisppd.com/articles/2006/24/1/images/JIndianSocPedodPrevDent_2006_24_1_45_22837_10.jpg


http://www.jisppd.com/articles/2006/24/1/images/JIndianSocPedodPrevDent_2006_24_1_45_22837_11.jpg


http://www.jisppd.com/articles/2006/24/1/images/JIndianSocPedodPrevDent_2006_24_1_45_22837_8.jpg


http://www.jisppd.com/articles/2006/24/1/images/JIndianSocPedodPrevDent_2006_24_1_45_22837_4.jpg


http://www.jisppd.com/articles/2006/24/1/images/JIndianSocPedodPrevDent_2006_24_1_45_22837_14.jpg



http://radiology.rsna.org/*******/229/1/51/F5.large.jpg


http://radiology.rsna.org/*******/229/1/51/F3.large.jpg

وجدان اليافعي
23-04-2011, 09:34 PM
موضوع رائع
مشكور ياغاليه نور العين على جهودك الرائعه
دمتي بحفظ المولى

dr.tamara
23-04-2011, 11:21 PM
موضوع رائع جدا

استمري نور :)

نور العين
24-04-2011, 01:08 PM
وجدان اليافعي
dr.tamara

http://i291.photobucket.com/albums/ll301/kelreeree/REEREES%20BIRTHDAY%20SEPT%208/Thanks-1.gif

drem
24-04-2011, 02:09 PM
Great informations

http://www.mayyar.com/album/data/media/23/thank_u.gif

نور العين
24-04-2011, 04:57 PM
drem


http://i608.photobucket.com/albums/tt166/ramsha303/thank_you_.gif

نور العين
24-04-2011, 05:08 PM
Acroosteolysis with osteoporosis and changes in skull and mandible
other ****:
*Arthrodentoosteodysplasia
*Cheney syndrome
Hajdu-Cheney syndrome*
Clinical features: acroosteolysis; digit abnormalities; short stature; micrognathia; abnormal dentition; joint hypermobility; wormian bones; open sutures of the skull; platybasia; sellar and clivus abnormalities; decreased bone
density[/align]
Inheritance: autosomal dominant
http://www.ijri.org/articles/2008/18/2/images/IndianJRadiolImaging_2008_18_2_138_40298_4.jpg
http://www.ijri.org/articles/2008/18/2/images/IndianJRadiolImaging_2008_18_2_138_40298_2.jpg
http://www.ijri.org/articles/2008/18/2/images/IndianJRadiolImaging_2008_18_2_138_40298_3.jpg
http://www.ijri.org/articles/2008/18/2/images/IndianJRadiolImaging_2008_18_2_138_40298_8.jpg
http://www.jaapa.com/Media/Images/47/surgpat0508figs12_46852.jpg[/COLOR][/COLOR]

د.جيهان
24-04-2011, 05:55 PM
Thank u noor
nice subject
continue
but i think if it is a long material
divide it in to separate topics under the same ****
just numbering them

نور العين
25-04-2011, 07:16 PM
4)ADULT syndrome



other ****:
*Gene map locus 3q27
Acro-dermato-ungual-lacrimal-tooth syndrome



Clinical features:
ectrodactyly;انعدام الاصابع
excessive freckling;
onychodysplasia;
lacrimal duct obstruction;
hypodontia and/or early loss of permanent teeth



Inheritance:
autosomal dominant


http://www.nature.com/ejhg/journal/v14/n8/images/5201640f1.jpg



http://www.cmj.org/Periodical/images/200704/2007429152915383.jpg



http://bjo.bmj.com/*******/vol90/issue9/images/large/bj93088.f3.jpeg

lacrimal duct obstruction

http://bjo.bmj.com/*******/vol90/issue9/images/large/bj93088.f2.jpeg

نور العين
27-04-2011, 09:55 PM
Amelogenesis imperfecta ( Developmental defect )


other ****:
.........................


Clinical features:
defect of dental e****l formation; yellow, brown or grey teeth


Inheritance :
Not known


http://www.mchoralhealth.org/PediatricOH/images/amelog_imp.jpg




http://www.ojrd.com/*******/figures/1750-1172-2-17-1-l.jpg




http://studentals.net/stu/imgcache/7050.imgcache.jpg

نور العين
28-04-2011, 09:35 PM
Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1



other ****:
Gene map locus Xp22.3-p22.1
Amelogenesis imperfecta, X-linked 1
E****l hypoplasia, X-linked



Clinical features:
hypoplastic amelogenesis imperfecta; thin e****l



Inheritance :
X-linked dominant





http://jdr.iadrjournals.org/*******/vol86/issue1/images/large/060164-1.jpeg



http://www.forp.usp.br/bdj/bdj10(2)/t08102/f02t08102.jpg



http://jdr.iadrjournals.org/*******/vol83/issue5/images/large/030231-2.jpeg



http://www.forp.usp.br/bdj/bdj10(2)/t08102/f01t08102.jpg

نور العين
29-04-2011, 04:38 PM
Amelogenesis imperfecta, hypoplastic type, IG


other ****:
AI1G
Amelogenesis imperfecta and nephrocalcinosis
ERS
E****l-renal syndrome


Clinical features:
absent e****l; nephrocalcinosis


Inheritance :
autosomal recessive





http://ndt.oxfordjournals.org/*******/vol21/issue10/images/large/gfl328f1.jpeg



http://ndt.oxfordjournals.org/*******/vol21/issue10/images/large/gfl328f2.jpeg


E****l-renal syndrome associated with hypokalaemic ****bolic alkalosis and impaired renal concentration: a novel syndrome

نور العين
30-04-2011, 01:20 PM
Amelogenesis imperfecta 1hypoplastic type


other ****:
*Gene map locus Xp22.3-p22.1
AIH1
E****l hypoplasia, hereditary


Clinical features:
e****l anomaly; small teeth



Inheritance :
X-linked dominant


http://www.cda-adc.ca/jcda/vol-67/issue-10/graphics/Fig1_4459.jpg

نور العين
01-05-2011, 07:48 PM
Amelogenesis imperfecta 2, hypoplastic local, autosomal dominant


other ****:
Gene map locus 4q1
AIH2
Amelogenesis imperfecta 2, hypocalcification type
Amelogenesis imperfecta, hypomineralization type


Clinical features:
soft opaque or yellowish white lusterless e****l; anterior open bite


Inheritance :
autosomal dominant form; also recessive and X-linked forms


http://jdr.iadrjournals.org/*******/vol81/issue11/images/large/014071b.jpeg


http://hmg.oxfordjournals.org/*******/vol10/issue16/images/large/DDE17701.jpeg


http://jdr.iadrjournals.org/*******/vol84/issue3/images/large/040194-3.jpeg

نور العين
02-05-2011, 02:11 PM
Amelogenesis imperfecta, pigmented hypomaturation type


other ****:
Gene map locus 19q13.4


Clinical features:
shiny agar jelly tooth appearance; brown pigment in middle
layers of e****l


Inheritance :
autosomal recessive




http://jmg.bmj.com/*******/vol42/issue3/images/large/mg24505.f1.jpeg


http://jdr.iadrjournals.org/*******/vol87/issue1/images/large/070266-2.jpeg


http://jdr.iadrjournals.org/*******/vol87/issue1/images/large/070266-1.jpeg

التائبة لربها
02-05-2011, 02:28 PM
http://www.w6w.net/album/35/w6w_w6w_200504290110112772f3b3f50.gif

نور العين
02-05-2011, 08:25 PM
Amelogenesis imperfecta, type IB


other ****:
Gene map locus 4q21
AI1B
AIH2
Amelogenesis imperfecta, hypoplastic local, autosomal dominant
E****l hypoplasia, hereditary localized



Clinical features:
hypoplastic amelogenesis imperfecta; horizontal row of pits, linear depressions, or one large hypoplastic area in the e****l with hypocalcification of the e****l adjacent to and below the hypoplastic area


Inheritance :
autosomal dominant



http://jdr.iadrjournals.org/*******/vol84/issue11/images/large/050110-1.jpeg


http://jdr.iadrjournals.org/*******/vol84/issue11/images/large/050110-2.jpeg

نور العين
03-05-2011, 04:38 PM
Amelogenesis imperfecta, type IC



other ****:
Gene map locus 4q21
AI1C
Amelogenesis imperfecta, hypoplastic, with or without openbite malocclusion, autosomal recessive
Amelogenesis imperfecta, local hypoplastic type, autosomal recessive


Clinical features:
local hypoplastic amelogenesis imperfecta


Inheritance :
autosomal recessive



http://jmg.bmj.com/*******/vol40/issue12/images/large/mg10884.f3.jpeg


http://jmg.bmj.com/*******/vol40/issue12/images/large/mg10884.f4.jpeg

نور العين
04-05-2011, 05:23 PM
Anauxetic dysplasia


other ****s:
Gene map locus 9p21-p12
Spondylo****epiphyseal dysplasia, Menger type
Spondylo****epiphyseal dysplasia, anauxetic type


Clinical features:
spondylo****epiphyseal dysplasia; extreme short stature; hypodontia; mild mental retardation


Inheritance:
autosomal recessive



http://download.ajhg.org/images/journalimages/0002-9297/PIIS0002929707633618.gr1_lrg.hi.jpg


http://download.ajhg.org/images/journalimages/0002-9297/PIIS0002929707613482.gr1_lrg.hi.jpg


http://jmg.bmj.com/*******/vol38/issue4/images/large/00141.f4.jpeg


http://jmg.bmj.com/*******/vol38/issue4/images/large/00141.f2.jpeg

نور العين
05-05-2011, 05:27 PM
[Apert syndrome - Dental anomalies



other ****s
Gene map locus 10q26
ACS1
Acrocephalosyndactyly, type I
Apert-Crouzon disease
Vogt cephalodactyly


Clinical features:
craniosynostosis; midface hypoplasia; syndactyly of the hands and feet; fusion of bony structures.


Inheritance:
autosomal dominant


[/align]

http://www.thecraniofacialcenter.org/images/apert_eyes.jpg


http://adc.bmj.com/*******/vol83/issue1/images/medium/965109.f1.gif


http://dermatology.cdlib.org/111/case_reports/apert/4.jpg


http://img.medscape.com/pi/emed/ckb/otolaryngology/834279-844209-1991.jpg


Hand of a patient with Apert syndrome showing syndactyly (soft tissue)

نور العين
05-05-2011, 05:39 PM
Axenfeld-Rieger syndrome, type 1

other ****s
Gene map locus 4q25-q26
RGS
RIEG
RIEG1
Rieger syndrome, type 1


Clinical features:
ocular anterior segment dysgenesis; dental, midface, and umbilical anomalies


Inheritance:
autosomal dominant



http://www.hindawi.com/journals/crm/2010/621984.fig.004.jpg

http://www.nature.com/ejhg/journal/v17/n12/images/ejhg200993f1.jpg


http://www.hindawi.com/journals/crm/2010/621984.fig.008a.jpg

http://www.hindawi.com/journals/crm/2010/621984.fig.007.jpg

http://www.biomedcentral.com/*******/figures/1471-2350-7-82-2-l.jpg

نور العين
05-05-2011, 05:55 PM
Brittle cornea syndrome



other ****s:
Gene map locus 16q24
BCS
Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility
EDS6B
Ehlers-Danlos syndrome, type VIB
Fragilitas oculi with joint hyperextensibility


Clinical features:
blue sclerae; corneal rupture after minor trauma; keratoconus or keratoglobus; hyperelasticity of the skin; hypermobility of the joints

Inheritance:
autosomal recessive




http://www.iovs.org/*******/51/1/47/F2.large.jpg


http://www.iovs.org/*******/51/1/47/F3.large.jpg


http://www.iovs.org/*******/51/1/47/F4.large.jpg

عبير الورد
05-05-2011, 09:45 PM
http://www.baqofa.com/forum/upload/20081017_104947_thanks.png

نور العين
06-05-2011, 02:06 PM
Burkitt lymphoma

Burkitt's lymphoma is a poorly differentiated rare and aggressive type of non-Hodgkin's lymphoma.



other ****s:
Gene map locus 8q24.12-q24.13
African lymphoma
BL
Lymphoma, Burkitt
Small non-cleaved cell lymphoma


Clinical features:
B-cell tumor of the lymphatic system


Inheritance:
not known



http://www.scielo.br/img/revistas/rboto/v74n3/en_23f1.jpg


http://adc.bmj.com/*******/vol90/issue3/images/large/ac62703.f1.jpeg
Intra-cardiac Burkitt's lymphoma



http://www.scielo.br/img/revistas/rboto/v74n3/en_23f4.jpg

نور العين
06-05-2011, 08:23 PM
Cherubism

other ****s:
Gene map locus 4p16.3
CRBM



Clinical features:
swelling of the lower face; loss of bone in the jaws and its replacement by excessive amounts of fibrous tissue


Inheritance:
autosomal dominant

http://download.ajhg.org/images/journalimages/0002-9297/PIIS0002929707637380.gr1_lrg.hi.jpg

http://download.ajhg.org/images/journalimages/0002-9297/PIIS0002929707637392.gr2_lrg.hi.jpg

http://www.ajronline.org/*******/vol182/issue4/images/large/AD0929_01A.jpeg

Imaging Characteristics of Cherubism

نور العين
07-05-2011, 06:16 PM
Cleft lip / cleft palate


other ****s:
..............................


Clinical features:
congenital split in the upper lip and the hard and soft palate of the mouth


Inheritance:
not known





http://www.thecraniofacialcenter.org/images/cleft.gif


http://hmg.oxfordjournals.org/*******/vol13/issue90001/images/large/ddh05202.jpeg


http://www.rcsed.ac.uk/journal/svol1_1/10000021.gif


http://www.umm.edu/plassurg/images/cl_uncom.jpg


http://www.umm.edu/plassurg/images/cl_bicom.jpg

نور العين
07-05-2011, 06:40 PM
Cleidocranial dysplasia


other ****s:
Gene map locus 6p21
CCD
Cleidocranial dysostosis


Clinical features:
delayed closure of the fontanel; hypoplastic clavicles; wide pubic symphysis; short middle phalanx of the fifth fingers; dental anomalies; short stature


Inheritance:
autosomal dominant



http://www.sanedentist.com/wp-*******/uploads/2010/03/Cleidocranial-dysplasia-e1268159925785.jpg


http://www.cda-adc.ca/JCDA/vol-67/issue-10/graphics/Fig2_4459.jpg


http://www.biomedcentral.com/*******/figures/1471-2350-8-82-2-l.jpg

نور العين
08-05-2011, 07:00 PM
Cornelia de Lange syndrome

Other ****s
Gene map locus 5p13.1
Brachmann-de Lange syndrome
CDL
CDLS
CDLS1
Cornelia de Lange syndrome 1
De Lange syndrome
Typus degenerativus Amstelodamensis

Clinical features:
characteristic facies; growth retardation; mental retardation; upper limb anomalies.

Inheritance:
autosomal dominant, isolated cases





http://img.medscape.com/pi/emed/ckb/dermatology/1048885-1116397-1779.jpg



http://www.nature.com/ejhg/journal/v15/n2/images/5201737f1.jpg


http://synapse.koreamed.org/ArticleImage/0069YMJ/ymj-50-289-g005-l.jpg

نور العين
08-05-2011, 07:14 PM
Cowden disease

other ****s:
Gene map locus 10q23.31
CD
Cerebellar granule cell hypertrophy and megalencephaly
Cerebelloparenchymal disorder VI
Cowden syndrome
Dysplastic gangliocytoma of the cerebellum
Lhermitte-Duclos disease
Multiple hamartoma syndrome.

Clinical features:
multiple hamartomas of the skin, mucous membranes, brain, breast, thyroid, and colon.

Inheritance:
autosomal dominant.



http://anagen.ucdavis.edu/1601/case_reports/cowden/1.jpg



http://radiographics.rsna.org/*******/24/6/1535/F36.small.gif



http://www.uveitis.org/images/Image1.jpg



http://download.imaging.consult.com/ic/images/S1933033206706747/gr1-midi.jpg


http://anagen.ucdavis.edu/1601/case_reports/cowden/2.jpg

نور العين
09-05-2011, 06:54 PM
Crouzon syndrome


Other ****s:
Gene map locus 10q26
CFD1
Craniofacial dysostosis, type I
Crouzon craniofacial dysostosis

Clinical features:
cranial synostosis; hypertelorism; exophthalmos and external strabismus; parrot-beaked nose; short upper lip; hypoplastic maxilla; mandibular prognathism

Inheritance:
autosomal dominant




http://www.jisppd.com/articles/2007/25/5/images/JIndianSocPedodPrevDent_2007_25_5_10_34739_1.jpg


http://www.ijri.org/articles/2011/21/1/images/IndianJRadiolImaging_2011_21_1_49_76055_f13.jpg


http://www.mrcophth.com/orbit/crouzonb.jpg


http://www.jisppd.com/articles/2007/25/5/images/JIndianSocPedodPrevDent_2007_25_5_10_34739_2.jpg

نور العين
09-05-2011, 07:11 PM
Cytomegalovirus infection, congenital


Other ****s:
......................


Clinical features:
mental retardation; intracranial calcifications; microcephaly; ventriculomegaly; cerebral atrophy; chorioretinitis; sensorineural hearing loss; hepatosplenomegaly; thrombocytopenia; cutaneous manifestations.


Inheritance:
........................



http://2.bp.blogspot.com/_uiyskjNZYt8/TM0aZtiFBeI/AAAAAAAACQc/-o7bhuY12P4/s200/cytomegalovirus.jpg


http://www.ajnr.org/*******/vol23/issue7/images/large/j40720241008.jpeg
Cerebellar dysplasia in a neonate with congenital cytomegalovirus infection


http://radiographics.rsnajnls.org/*******/vol19/issue6/images/large/g99no23g21a.jpeg



http://adc.bmj.com/*******/vol92/issue3/images/large/ac111807.f1.jpeg
Green teeth

نور العين
10-05-2011, 06:26 PM
Deafness, congenital, with inner ear agenesis, microtia, and microdontia

Other ****s:
*Gene map locus 11q13
Deafness with LAMM
Deafness, congenital, with labyrinthine aplasia, microtia, and microdontia.

Clinical features:
sensorineural deafness; microtia; microdontia; anteverted ears; complete absence of inner ear.

Inheritance:
autosomal recessive.




http://www.nature.com/ejhg/journal/v17/n1/images/ejhg2008141f2.jpg



http://www.biomedcentral.com/*******/figures/1471-2350-12-21-2-l.jpg



http://download.ajhg.org/images/journalimages/0002-9297/PIIS0002929707626913.gr2_lrg.hi.jpg

نور العين
11-05-2011, 05:38 PM
Dens invaginatus

Other ****s:
Dens in dente.

Clinical features:
anomaly of the tooth, found chiefly in upper lateral incisors; invagination of the e****l at the incisal edge.

Inheritance:
........................

http://www.jisppd.com/articles/2008/26/6/images/JIndianSocPedodPrevDent_2008_26_6_72_43536_u1.jpg



http://www.jisppd.com/articles/2005/23/3/images/JIndianSocPedodPrevDent_2005_23_3_151_16890_2.jpg



http://www.jcda.ca/uploads/a114/fig2.png



http://www.ijdr.in/articles/2009/20/2/images/IndianJDentRes_2009_20_2_238_52887_u3.jpg

نور العين
11-05-2011, 06:01 PM
Dental ectopia

Other ****s:
..........................

Clinical features:
change in the normal pathway of a tooth eruption, which may occur in any region of the alveolar and basal bone.

Inheritance:
........................





http://www.hindawi.com/isrn/dentistry/2011/329067.fig.002b.jpg



http://www.hindawi.com/isrn/dentistry/2011/329067.fig.003d.jpg



http://www.hindawi.com/isrn/dentistry/2011/329067.fig.003b.jpg

نور العين
19-05-2011, 04:23 PM
Dental transposition

Other ****s:
Tooth transposition.

Clinical features:
positional interchange of two adjacent teeth, or the development or eruption of a tooth in a position normally occupied by a non-adjacent tooth.

Inheritance:
........................


http://ejo.oxfordjournals.org/*******/vol27/issue5/images/large/eorthocji040f03_ht.jpeg



http://ejo.oxfordjournals.org/*******/vol27/issue5/images/large/eorthocji040f02_ht.jpeg


http://ejo.oxfordjournals.org/*******/vol27/issue5/images/large/eorthocji040f01_ht.jpeg

نور العين
19-05-2011, 04:27 PM
Dentin dysplasia, type I.

Other ****s:
Radicular dentin dysplasia
Rootless teeth.

Clinical features:
malalignment; absent to short roots; absent pulp chambers (primary teeth); crescent/chevron-shaped pulp chambers (secondary teeth); absent root canals.

Inheritance:
autosomal dominant.



http://www.jmedicalcasereports.com/*******/figures/1752-1947-4-1-3-l.jpg


http://www.jmedicalcasereports.com/*******/figures/1752-1947-4-1-1-l.jpg


http://www.jisppd.com/articles/2009/27/2/images/JIndianSocPedodPrevDent_2009_27_2_131_55343_u4.jpg

نور العين
19-05-2011, 10:22 PM
Dentin dysplasia, type II

Other ****s:
*Gene map locus 4q21.3
Anomalous dysplasia of dentin
Coronal dentin dysplasia
DTDP2
Dentin dysplasia, Shields type II
Pulp stones
Pulpal dysplasia.

Clinical features:
opalescent deciduous teeth, with obliterated pulp chambers; permanent teeth are normal in color and have a thistle-tube pulp chamber configuration with pulp stones.

Inheritance:
autosomal dominant.



http://hmg.oxfordjournals.org/*******/vol11/issue21/images/large/ddf24501.jpeg


http://www.accentu8dental.com.au/attachments/Image/Oral%20Diseases/Opalescent%20hue%20of%20teeth%20with%20dentin%20dy splasia%20type%20II.JPG

نور العين
19-05-2011, 10:27 PM
Dentinogenesis imperfecta.

Other ****s:
Opalescent dentin.

Clinical features:
opalescent dentin resulting in discoloration of the teeth, ranging from dusky blue to brownish; poorly formed dentin with an abnormally low mineral *******; obliterated pulp canal; normal e****l; the teeth usually wear down rapidly, leaving short, brown stumps.

Inheritance:
...........................


http://jorthod.maneyjournals.org/*******/vol30/issue4/images/large/Kind.f1c.jpeg


http://www.ojrd.com/*******/figures/1750-1172-3-31-1-l.jpg


http://www.cda-adc.ca/jcda/vol-67/issue-10/graphics/Fig4_4459.jpg

نور العين
19-05-2011, 10:33 PM
Dentinogenesis imperfecta 1.

Other ****s:
*Gene map locus 4q21.3
Capdepont teeth
DGI-II
DGI1
Dentinogenesis imperfecta without osteogenesis imperfecta
Dentinogenesis imperfecta, Shields type II
Opalescent dentin
Opalescent teeth without osteogenesis imperfecta.

Clinical features:
brown-blue or opalescent brown teeth; bulbous shaped crown; narrow roots; small or obliterated root canals; absent pulp chambers; severe attrition.

Inheritance:
autosomal dominant.



http://www.ijdr.in/articles/2008/19/4/images/IndianJDentRes_2008_19_4_357_44543_u9.jpg


http://www.ijdr.in/articles/2008/19/4/images/IndianJDentRes_2008_19_4_357_44543_u8.jpg


http://www.ijdr.in/articles/2008/19/4/images/IndianJDentRes_2008_19_4_357_44543_u11.jpg


http://www.ijdr.in/articles/2008/19/4/images/IndianJDentRes_2008_19_4_357_44543_u12.jpg

نور العين
19-05-2011, 10:40 PM
Dubowitz syndrome.

Other ****s:
.............................

Clinical features:
short stature; microcephaly; mild mental retardation with behavior problems; eczema; unusual and distinctive facies.

Inheritance:
autosomal recessive.



http://www.jmedicalcasereports.com/*******/figures/1752-1947-5-38-4-l.jpg



http://www.jmedicalcasereports.com/*******/figures/1752-1947-5-38-3-l.jpg


http://www.jmedicalcasereports.com/*******/figures/1752-1947-5-38-2-l.jpg


http://www.jmedicalcasereports.com/*******/figures/1752-1947-5-38-5-l.jpg

نور العين
19-05-2011, 10:47 PM
Duchenne muscular dystrophy.

Other ****s:
Gene map locus 12q21, Xp21.2
DMD
Muscular dystrophy, Duchenne type
Muscular dystrophy, pseudohypertrophic progressive, Duchenne type.

Clinical features:
rapidly progressive muscle weakness which starts in the legs and pelvis and later affects the whole ****.

Inheritance:
X-linked recessive.


http://www.neurologyindia.com/articles/2008/56/3/images/ni_2008_56_3_236_43441_u1.jpg


http://ejo.oxfordjournals.org/*******/vol29/issue5/images/large/eorthocjm045f06_ht.jpeg


http://neuromuscular.wustl.edu/pics/people/patients/tonguehypertdmdsm.jpg


http://bjo.bmj.com/*******/vol88/issue12/images/large/bj46615.f2.jpeg
Severe proliferative retinopathy in a patient with advanced muscular dystrophy.

نور العين
19-05-2011, 10:55 PM
Ectodermal dysplasia, hypohidrotic, autosomal dominant.

Other ****s:
Gene map locus 2q11-q13, 1q42.2-q43
HED.

Clinical features:
hypodontia; hypohidrosis; hypotrichosis.

Inheritance:
autosomal dominant.


http://www.biomedcentral.com/*******/figures/1471-2350-7-80-2-l.jpg


http://dermimages.med.jhmi.edu/images/hypopidrotic_ectoderma_dysplasia_1_070107.jpg

نور العين
19-05-2011, 11:12 PM
Ectodermal dysplasia, hypohidrotic, autosomal recessive.

Other ****s:
Gene map locus 2q11-q13, 1q42.2-q43
Ectodermal dysplasia, anhidrotic

Clinical features:
abnormal hair, teeth, and sweat gland development.

Inheritance:
autosomal recessive.



http://www.nature.com/jid/journal/v123/n4/images/5602502f6.gif

نور العين
19-05-2011, 11:19 PM
Ectodermal dysplasia, hypohidrotic, with immune deficiency.

Other ****s:
Gene map locus Xq28
EDA-ID
Ectodermal dysplasia, anhidrotic, with immune deficiency
HED-ID
Hyper-IgM immunodeficiency, X-linked, with ectodermal dysplasia, hypohidrotic
XHM-ED

Clinical features:
anhidrotic ectodermal dysplasia, immunodeficiency, recurrent infections.

Inheritance:
X-linked recessive.



http://download.ajhg.org/images/journalimages/0002-9297/PIIS0002929707632236.gr2_lrg.hi.jpg
A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma (NEMO)


http://pediatrics.aappublications.org/*******/vol115/issue5/images/large/zpe0050512510001.jpeg


http://pediatrics.aappublications.org/*******/vol118/issue1/images/large/zpe0070624230001.jpeg

نور العين
19-05-2011, 11:28 PM
Ectodermal dysplasia, hypohidrotic, X-linked.

Other ****s:
Gene map locus Xq12-q13.1
CST syndrome XLHED
Christ-Siemens-Touraine syndrome
ED1
EDA
EDA1
Ectodermal dysplasia 1
Ectodermal dysplasia, anhidrotic, X-linked
XHED.

Clinical features:
males are usually more severely affected, and females show variable severity, ranging from mild to severe; sparse hair (atrichosis or hypotrichosis); abnormal or missing teeth (anodontia or hypodontia); inability to sweat due to lack of sweat glands (anhidrosis or hypohidrosis)

Inheritance:
X-linked recessive.


http://www.scielo.br/img/revistas/abd/v84n2/en_2a16fig01.jpg



http://www.scielo.br/img/revistas/abd/v84n2/en_2a16fig03.jpg



http://www.scielo.br/img/revistas/abd/v84n2/en_2a16fig02.jpg

نور العين
20-05-2011, 01:37 PM
EEC syndrome.

Other ****s:
Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.

Clinical features:
ectrodactyly of hands and feet; ectodermal dysplasia; orofacial clefts.

Inheritance:
..........................


http://www.ijo.in/articles/2007/55/2/images/IndianJOphthalmol_2007_55_2_162_30725_4.jpg



http://anagen.ucdavis.edu/1605/2_case_presentations/7_10-00106/4b.jpg


http://anagen.ucdavis.edu/1605/2_case_presentations/7_10-00106/4a.jpg
White sponge nevus in a patient with EEC syndrome


http://dermatology.cdlib.org/124/case_reports/dysplasia/1.jpg

نور العين
20-05-2011, 01:49 PM
EEM syndrome

Other ****s:
Ectodermal dysplasia, ectrodactyly, and macular dystrophy
Gene map locus 16q22.1

Clinical features:
hypotrichosis; sparse scalp hair; sparse eyebrows and eyelashes; partial anodontia; ectrodactyly; syndactyly; macular dystrophy.

Inheritance:
autosomal recessive.


http://jmg.bmj.com/*******/vol42/issue4/images/large/mg27821.f1.jpeg

نور العين
21-05-2011, 04:34 PM
Ellis-van Creveld syndrome .

other ****:
Gene map locus 4p16
Chondroectodermal dysplasia
EVC
Mesoectodermal dysplasia

Clinical features:
short stature; short limbs; short ribs; postaxial polydactyly; dysplastic nails and teeth.

Inheritance:
autosomal recessive.



http://www.ijdr.in/articles/2010/21/1/images/IndianJDentRes_2010_21_1_143_62791_f4.jpg


http://www.jisppd.com/articles/2009/27/4/images/JIndianSocPedodPrevDent_2009_27_4_256_57663_f3.jpg


http://www.jisppd.com/articles/2009/27/4/images/JIndianSocPedodPrevDent_2009_27_4_256_57663_f4.jpg



http://www.biomedcentral.com/*******/figures/1471-2350-9-92-5-l.jpg

نور العين
21-05-2011, 04:47 PM
Epidermolysis bullosa, junctional, non-Herlitz type.

other ****:
Gene map locus 1q25-q31, 17q11-qter, etc.
Epidermolysis bullosa junctionalis, Disentis type
Epidermolysis bullosa junctionalis, progressive
Epidermolysis bullosa junctionalis, severe nonlethal
Epidermolysis bullosa, generalized atrophic benign
GABEB.

Clinical features:
generalized skin blistering; dental anomalies; universal alopecia; nail dystrophy.

Inheritance:
autosomal recessive.



http://download.ajhg.org/images/journalimages/0002-9297/PIIS0002929707633564.gr5_lrg.hi.jpg


http://www.nature.com/jid/journal/v127/n7/images/5700766f1.jpg


http://download.ajhg.org/images/journalimages/0002-9297/PIIS0002929707633564.gr1_lrg.hi.jpg

نور العين
21-05-2011, 04:52 PM
Fibromatosis, gingival.

other ****:
Fibromatosis, gingival, hereditary.

Clinical features:
slowly progressive benign enlargement of the oral gingival tissues; teeth partially or totally engulfed by keratinized gingiva.

Inheritance:
..........................




http://jorthod.maneyjournals.org/*******/vol30/issue1/images/large/ClocFig1b.jpeg



http://jorthod.maneyjournals.org/*******/vol30/issue1/images/large/ClocFig1a.jpeg



http://www.hindawi.com/journals/ijd/2010/575979.fig.005b.jpg

نور العين
21-05-2011, 04:56 PM
Fibromatosis, gingival, 1.

other ****:
Gene map locus 5q13-q22, 2p22-p21
Fibromatosis, gingival, hereditary
GGF1
GINGF
GINGF1
HGF.

Clinical features:
slowly progressive benign enlargement of the oral gingival tissues; teeth partially or totally engulfed by keratinized gingiva.

Inheritance:
autosomal dominant; sporadic cases; autosomal recessive.


http://download.ajhg.org/images/journalimages/0002-9297/PIIS000292970760980X.gr2_lrg.hi.jpg

نور العين
21-05-2011, 05:06 PM
Frontonasal dysplasia.

other ****:
Gene map locus 1p21-p13
FND
FND1
FNM
Frontonasal dysplasia 1
Frontonasal malformation
Frontorhiny
Median facial cleft syndrome.

Clinical features:
hypertelorism; broad nasal root; lack of a nasal tip; widow's peak; anterior cranium bifidum occultum.

Inheritance:
isolated cases.




http://www.indianpediatrics.net/jan2004/jan-904.jpg



http://jada.ada.org/*******/vol136/issue5/images/large/montero_631fig2.jpeg



http://jada.ada.org/*******/vol136/issue5/images/large/montero_631fig4.jpeg



http://bjo.bmj.com/*******/vol82/issue3/images/large/97233.f3.jpeg
Optic disc anomalies and frontonasal dysplasia

نور العين
22-05-2011, 03:02 PM
GAPO syndrome.

other ****:
Growth retardation, alopecia, pseudoanodontia, and optic atrophy

Clinical features:
growth retardation; alopecia; failure of tooth eruption; progressive optic atrophy.

Inheritance:
autosomal recessive.



http://www.scielo.br/img/revistas/bdj/v17n3/v17a16f01.jpg



http://www.scielo.br/img/revistas/bdj/v17n3/v17a16f02.jpg



http://www.scielo.br/img/revistas/bdj/v17n3/v17a16f03.jpg



http://www.scielo.br/img/revistas/bdj/v17n3/v17a16f04.jpg



http://www.scielo.br/img/revistas/bdj/v17n3/v17a16f05.jpg



http://www.scielo.br/img/revistas/bdj/v17n3/v17a16f06.jpg

نور العين
22-05-2011, 03:13 PM
Glanzmann thrombasthenia

other ****:
Gene map locus 17q21.32
GP IIb-IIIa complex, deficiency of
GT
Glycoprotein complex IIb-IIIa, deficiency of
Platelet fibrinogen receptor, deficiency of
Platelet glycoprotein IIb-IIIa deficiency
Thrombasthenia of Glanzmann and Naegeli

Clinical features:
prolonged bleeding time; failure of platelet aggregation; absent or diminished clot retraction; mucocutaneous bleeding; epistaxis, gingival hemorrhage; menorrhagia; unprovoked bruising.

Inheritance:
autosomal recessive.


http://www.jisponline.com/articles/2008/12/1/images/JIndianSocPeriodontol_2008_12_1_26_44095_u1.jpg



http://www.jisppd.com/articles/2007/25/5/images/JIndianSocPedodPrevDent_2007_25_5_37_34746_4.jpg



http://www.jisppd.com/articles/2007/25/5/images/JIndianSocPedodPrevDent_2007_25_5_37_34746_6.jpg


http://www.jisppd.com/articles/2007/25/5/images/JIndianSocPedodPrevDent_2007_25_5_37_34746_2.jpg



http://www.indianjurol.com/articles/2010/26/1/images/IndianJUrol_2010_26_1_115_60456_u1.jpg
Hematuria: An uncommon presentation of Glanzmann's thrombasthenia

نور العين
22-05-2011, 03:27 PM
Goldenhar syndrome.

other ****:
Gene map locus 14q32
Facioauriculovertebral sequence
HFM
Hemifacial microsomia
Oculoauriculovertebral dysplasia
Oculoauriculovertebral spectrum.

Clinical features:
birth defect involving first and second branchial arch derivatives; craniofacial anomalies; cardiac, vertebral, and central nervous system defects.

Inheritance:
sporadic cases, rarely autosomal dominant.


http://www.scielo.br/img/revistas/jped/v82n1/en_n1a15f2.gif




http://www.jisppd.com/articles/2008/26/5/images/JIndianSocPedodPrevDent_2008_26_5_34_41754_3.jpg



http://www.jisppd.com/articles/2008/26/5/images/JIndianSocPedodPrevDent_2008_26_5_34_41754_5.jpg



http://www.jisppd.com/articles/2008/26/5/images/JIndianSocPedodPrevDent_2008_26_5_34_41754_8.jpg

نور العين
23-05-2011, 05:46 PM
Gorlin syndrome.

other ****:
Gene map locus 9q22.3
BCNS
Basal cell nevus syndrome
Fifth phacomatosis
Gorlin-Goltz syndrome
Multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies
Nevoid basal cell carcinoma syndrome.

Clinical features:
multiple basal cell carcinomas; recurrent odontogenic keratocysts; skeletal anomalies.

Inheritance:
autosomal dominant.




http://img.medscape.com/pi/emed/ckb/pediatrics_general/1331341-1331369-986676-1653880.jpg



http://www.jisppd.com/articles/2005/23/4/images/JIndianSocPedodPrevDent_2005_23_4_198_19010_3.jpg



http://www.jisppd.com/articles/2005/23/4/images/JIndianSocPedodPrevDent_2005_23_4_198_19010_4.jpg



http://www.jisppd.com/articles/2005/23/4/images/JIndianSocPedodPrevDent_2005_23_4_198_19010_7.jpg

نور العين
23-05-2011, 06:03 PM
Griscelli syndrome.

other ****:
.......................

Clinical features:
partial albinism with variable immunodeficiency.

Inheritance:
......................



http://www.jisppd.com/articles/2008/26/7/images/JIndianSocPedodPrevDent_2008_26_7_118_44841_u1.jpg



http://www.jisppd.com/articles/2008/26/7/images/JIndianSocPedodPrevDent_2008_26_7_118_44841_u2.jpg



http://www.jisppd.com/articles/2008/26/7/images/JIndianSocPedodPrevDent_2008_26_7_118_44841_u4.jpg

نور العين
23-05-2011, 06:14 PM
Haim-Munk syndrome.

other ****:
Gene map locus 11q14.1-q14.3
Cochin Jewish disorder
HMS
Keratosis palmoplantaris with periodontopathia and onychogryposis.

Clinical features:
palmoplantar keratosis; pes planus; onychogryphosis; periodontosis; arachnodactyly; acroosteolysis.

Inheritance:
autosomal recessive.



http://www.ijdvl.com/articles/2011/77/2/images/ijdvl_2011_77_2_252_77487_f1.jpg



http://www.ijdvl.com/articles/2011/77/2/images/ijdvl_2011_77_2_252_77487_f3.jpg



http://www.ijdvl.com/articles/2011/77/2/images/ijdvl_2011_77_2_252_77487_f4.jpg

نور العين
26-05-2011, 03:30 PM
Hay-Wells syndrome

other ****:
Gene map locus 3q27
AEC syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate.

Clinical features:
ectodermal dysplasia; dystrophic nails; hypohidrosis; scalp infections; ankyloblepharon filiforme adnatum; hypodontia; maxillary hypoplasia; cleft lip/palate.

Inheritance:
autosomal dominant.



http://www.scielo.br/img/revistas/abd/v85n2/en_17f01.jpg



http://www.scielo.br/img/revistas/abd/v85n2/en_17f02.jpg



http://www.scielo.br/img/revistas/abd/v85n2/en_17f03.jpg




http://www.scielo.br/img/revistas/abd/v85n2/en_17f04.jpg

نور العين
26-05-2011, 03:34 PM
Hyalinosis, infantile systemic.

other ****:
Gene map locus 4q21
ISH
Infantile systemic hyalinosis.

Clinical features:
widespread hyaline deposits; joint contractures; pearly papules; fleshy nodules; gingival hypertrophy; thickened skin; osteoporosis; diarrhea; recurrent infections.

Inheritance:
autosomal recessive.



http://dermatology-s10.cdlib.org/1505/case_presentations/ish/4.jpg




http://dermatology-s10.cdlib.org/1505/case_presentations/ish/5.jpg




http://dermatology-s10.cdlib.org/1505/case_presentations/ish/6.jpg




http://dermatology-s10.cdlib.org/1505/case_presentations/ish/4.jpg

نور العين
26-05-2011, 03:39 PM
Hyperdontia.

other ****:
Teeth, supernumerary.

Clinical features:
a supernumerary tooth is one that is additional to the normal series and can be found in almost any region of the dental arch.

Inheritance:
......................


http://www.ijdr.in/articles/2007/18/3/images/IndianJDentRes_2007_18_3_138_33792_3.jpg




http://www.ijdr.in/articles/2007/18/3/images/IndianJDentRes_2007_18_3_138_33792_6.jpg




http://www.ijdr.in/articles/2007/18/3/images/IndianJDentRes_2007_18_3_144_33794_1.jpg

نور العين
26-05-2011, 03:48 PM
Hypodontia.

other ****:
......................
Clinical features:
1 to 6 teeth missing (excluding third molars).

Inheritance:
......................





http://www.braces4oxford.co.uk/images/hypo1.jpg



http://ipj.quintessenz.de/ipj/*******/2009-01/poster432/abb14.jpg



http://www.cda-adc.ca/jcda/vol-67/issue-10/graphics/Fig7_4459.jpg

نور العين
27-05-2011, 09:57 PM
Hypophosphatasia.

other ****s:
...........................

Clinical features:
defective bone and teeth mineralization; low activity of serum and bone alkaline phosphatase.

Inheritance:
...........................


http://www.ojrd.com/*******/figures/1750-1172-4-6-2-l.jpg



http://www.ojrd.com/*******/figures/1750-1172-4-6-3-l.jpg



http://www.ojrd.com/*******/figures/1750-1172-4-6-4-l.jpg

نور العين
27-05-2011, 10:12 PM
Hypophosphatasia, infantile.

other ****s:
Gene map locus 1p36.1-p34
HOPS
Phosphoethanolaminuria.

Clinical features:
lethal perinatal form with craniosynostosis and severe skeletal abnormalities; infantile form with moderately severe rachitic skeletal changes and premature loss of teeth.

Inheritance:
autosomal recessive.



http://radiographics.rsnajnls.org/*******/vol24/issue2/images/large/g04mr04g01a.jpeg



http://radiographics.rsnajnls.org/*******/vol24/issue2/images/large/g04mr04g01b.jpeg

نور العين
27-05-2011, 10:18 PM
Incontinentia pigmenti.

other ****s:
Gene map locus Xq28
Bloch-Sulzberger syndrome
IP
Incontinentia pigmenti, familial male-lethal type.

Clinical features:
usually lethal prenatally in males; abnormalities of skin, teeth, hair, and eyes in affected females.

Inheritance:
X-linked dominant.



http://www.scielo.br/img/revistas/abd/v85n3/en_a13fig01.gif




http://www.jmedicalcasereports.com/*******/figures/1752-1947-3-116-1.jpg



http://bjo.bmj.com/*******/vol87/issue5/images/large/bj02283.f1.jpeg

نور العين
27-05-2011, 10:27 PM
Kabuki syndrome.

other ****s:
KMS
Kabuki make-up syndrome
Niikawa-Kuroki syndrome

Clinical features:
mental retardation; dwarfism; peculiar facies; scoliosis; short fifth finger; persistence of fingerpads; recurrent otitis media.

Inheritance:
autosomal dominant.


http://www.scielo.br/img/revistas/bdj/v17n3/v17a14f01.jpg



http://www.biomedcentral.com/*******/figures/1471-2350-9-27-1-l.jpg




http://www.scielo.br/img/revistas/bdj/v17n3/v17a14f04.jpg




http://www.nature.com/eye/journal/v18/n3/images/6700649f2.jpg



http://jorthod.maneyjournals.org/*******/vol33/issue4/images/large/242.f3.jpeg

نور العين
27-05-2011, 10:36 PM
Klippel-Trenaunay-***er syndrome.

other ****s:
Gene map locus 8q22.3
Angioosteohypertrophy syndrome
KTS
KTW syndrome
Klippel-Trenaunay syndrome

Clinical features:
large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.

Inheritance:
sporadic.


http://archopht.ama-assn.org/*******/vol127/issue8/images/medium/eld90017f1.jpg



http://dermatology.cdlib.org/94/NYU/Nov2002/111902-8aa.jpg

نور العين
27-05-2011, 10:43 PM
Laugier-Hunziker syndrome.

other ****s:
Lentiginosis endobuccalis.

Clinical features:
benign melanotic pigmentation of the oral cavity and lips; spotted macular pigmentation of the fingertips; longitudinal melanonychia.

Inheritance:
sporadic disorde.



http://dermatology.cdlib.org/1611/articles/23_2009-11-17/1.jpg




http://www.hindawi.com/journals/ijd/2010/525404.fig.002a.jpg




http://www.hindawi.com/journals/ijd/2010/525404.fig.001.jpg




http://dermis.multimedica.de/bilder/CD041/550px/img0014.jpg

نور العين
28-05-2011, 09:22 PM
Marfan syndrome.

other ****s:
Gene map locus 15q21.1
MFS
MFS1
Marfan syndrome, type I.

Clinical features:
increased ******; long limbs and digits; anterior chest deformity; joint laxity; vertebral column deformity; narrow, highly arched palate; crowded teeth; myopia; increased axial globe length; corneal flatness; subluxation of the lenses; mitral valve prolapse; mitral regurgitation; dilatation of the aortic root; aortic regurgitation.

Inheritance:
autosomal dominant.


http://www.hughston.com/hha/b_12_2_4a.jpg




http://www.mja.com.au/public/issues/184_12_190606/sum10907_fm-1f.jpg



http://www.hughston.com/hha/b_12_2_4c.jpg



http://www.hughston.com/hha/b_12_2_4d.jpg



http://www.nlm.nih.gov/medlineplus/ency/images/ency/fullsize/9611.jpg



http://pmj.bmj.com/*******/vol78/issue925/images/large/pj02223.f5.jpeg



http://radiographics.rsnajnls.org/*******/vol27/issue4/images/large/g07jl12g09a.jpeg

نور العين
28-05-2011, 09:27 PM
Microphthalmia, syndromic 2.

other ****s:
Gene map locus Xp11.4
MCOPS2
Microphthalmia, cataracts, radiculomegaly, and septal heart defects
OFCD syndrome
Oculofaciocardiodental syndrome.

Clinical features:
microphthalmia; congenital cataracts; facial dysmorphic features; congenital heart defects; dental anomalies.

Inheritance:
X-linked dominant.



http://www.nature.com/ejhg/journal/v17/n10/images/ejhg200952f3.jpg



http://www.nature.com/ejhg/journal/v13/n5/images/5201391f1.jpg


http://www.ijhg.com/articles/2010/16/3/images/IndianJHumGenet_2010_16_3_169_73416_f2.jpg

نور العين
29-05-2011, 05:07 PM
Naegeli-Franceschetti-Jadassohn syndrome.

other ****s:
Gene map locus 17q12-q21
NFJ syndrome
NFJS
Naegeli syndrome.

Clinical features:
absence of dermatoglyphics; reticular cutaneous hyperpigmentation; hypohidrosis with diminished sweat gland function and discomfort provoked by heat; nail dystrophy; tooth e****l defects; moderate hyperkeratosis of the palms and soles.

Inheritance:
autosomal dominant.






http://download.ajhg.org/images/journalimages/0002-9297/PIIS0002929707630833.gr1_lrg.hi.jpg




http://img.medscape.com/pi/emed/ckb/dermatology/1048885-1117926-2373.jpg




http://img.medscape.com/pi/emed/ckb/dermatology/1048885-1117926-2374.jpg




http://img.medscape.com/pi/emed/ckb/dermatology/1048885-1117926-2377.jpg

نور العين
29-05-2011, 05:13 PM
Nance-Horan syndrome.

other ****s:
Gene map locus Xp22.13
Cataract, X-linked, with Hutchinsonian teeth
Cataract-dental syndrome
Mesiodens-cataract syndrome
NHS.

Clinical features:
cataracts; dental anomalies;extra incisors; dysmorphic features.

Inheritance:
X-linked dominant.



http://hmg.oxfordjournals.org/*******/vol18/issue14/images/large/ddp20602.jpeg




http://download.ajhg.org/images/journalimages/0002-9297/PIIS0002929707619740.gr1_lrg.hi.jpg

نور العين
29-05-2011, 05:16 PM
Noonan syndrome.

other ****s:
Female pseudo-Turner syndrome
Male Turner syndrome.

Clinical features:
short stature; ***bed neck; ptosis; low-set posteriorly rotated ears; hypertelorism; skeletal malformations; cardiac abnormalities; cryptorchidism.

Inheritance:
.......................



http://www.jpgmonline.com/articles/2005/51/4/images/jpgm_2005_51_4_319_19248_1.jpg




http://www.jpgmonline.com/articles/2005/51/4/images/jpgm_2005_51_4_319_19248_2.jpg



http://www.jisppd.com/articles/2007/25/3/images/JIndianSocPedodPrevDent_2007_25_3_144_36567_3.jpg

نور العين
07-06-2011, 02:03 PM
Oculodentodigital dysplasia

other ****s:
Gene map locus 6q21-q23.2
ODD syndrome
ODDD
ODOD
Oculodentoosseous dysplasia.

Clinical features:
thin nose with hypoplastic alae nasi; small anteverted nares; prominent columnella; microcephaly; microphthalmia; microcornea; cataracts; glaucoma; microdontia; partial anodontia; hand and foot abnormalities.

Inheritance:
autosomal dominant.





http://www.john-libbey-euro****.fr/en/revues/medecine/ejd/e-docs/00/04/18/FC/****e_alt_jleejd00204_gr1.jpg



http://archopht.ama-assn.org/*******/vol123/issue10/images/medium/eog40007f3.jpg




http://archopht.ama-assn.org/*******/vol123/issue10/images/medium/eog40007f2.jpg



http://download.ajhg.org/images/journalimages/0002-9297/PIIS0002929707605497.gr1_lrg.hi.jpg

نور العين
07-06-2011, 02:18 PM
Oligodontia

other ****s:
.............................

Clinical features:
more than six teeth missing (excluding the third molars).

Inheritance:
.........................



http://img.tfd.com/mosby/thumbs/500178-fx7.jpg



http://www.ispub.com/ispub/ijds/volume_7_number_2_20/prosthodontic-treatment-of-a-patient-with-ectodermal-dysplasia-a-case-report/dysplasia-fig3.jpg
http://www.ispub.com/ispub/ijds/volume_3_number_2_11/nonsyndromic_oligodontia_in_permanent_dentition_th ree_siblings/dentition-fig1.jpg

نور العين
07-06-2011, 02:27 PM
Oligodontia-colorectal cancer syndrome.


other ****s:
Gene map locus 17q24
Tooth agenesis-colorectal cancer syndrome.

Clinical features:
severe tooth agenesis & colorectal cancer or precancerous lesions of variable types


Inheritance:
autosomal dominant.



http://download.ajhg.org/images/journalimages/0002-9297/PIIS0002929707643687.gr1_lrg.hi.jpg

نور العين
07-06-2011, 02:38 PM
Osteogenesis imperfecta.


other ****s:
Fragilitas ossium
Lobstein disease.


Clinical features:
congenital bone fragility; brittle and easily fractured bones.

Inheritance:
........................



http://www.netterimages.com/images/vpv/000/000/008/8136-0550x0475.jpg



http://radiographics.rsna.org/*******/24/2/507/F3.large.jpg



http://medgen.genetics.utah.edu/photographs/diseases/high/peri022.jpg



http://radiographics.rsna.org/*******/23/4/871/F14.medium.gif

نور العين
08-06-2011, 04:54 PM
Osteogenesis imperfecta, type I

other ****s:
Gene map locus 17q21.31-q22, 7q22.1
OI, type I
Osteogenesis imperfecta tarda
Osteogenesis imperfecta with blue sclerae

Clinical features:
bone fragility; blue sclerae.

Inheritance:
autosomal dominant.





http://adc.bmj.com/*******/vol88/issue10/images/small/ac327052.f1.gif



http://www.ajnr.org/*******/vol25/issue6/images/large/zj40060410790003.jpeg



http://www.jocmr.org/index.php/JOCMR/article/viewFile/369/241/2408



http://www.molvis.org/molvis/v13/a39/v13a39f2.jpg

نور العين
08-06-2011, 04:59 PM
Osteogenesis imperfecta, type II.

other ****s:
Gene map locus 17q21.31-q22, 7q22.1
OI, type II
OIC
Osteogenesis imperfecta congenita
Osteogenesis imperfecta congenita, neonatal lethal form
Vrolik type of osteogenesis imperfecta.

Clinical features:
perinatal lethal form of osteogenesis imperfecta; rhizomelia; bone irregularity and bowing due to multiple fractures; small thorax; pulmonary hypoplasia.

Inheritance:
.......................





http://www.centrus.com.br/DiplomaFMF/SeriesFMF/18-23-weeks/chapter-09/skeleton_files/image016.jpg



http://pediatrics.aappublications.org/*******/vol106/issue5/images/medium/pe1104548001.gif

نور العين
08-06-2011, 05:01 PM
Osteogenesis imperfecta, type III.

other ****s:
Gene map locus 17q21.31-q22, 7q22.1
OI, type III
Osteogenesis imperfecta, progressively deforming, with normal sclerae.

Clinical features:
extremely short stature; limb and spinal deformities secondary to multiple fractures.

Inheritance:
autosomal dominant or autosomal recessive.



http://jmg.bmj.com/*******/vol37/issue5/images/large/99234.f1.jpeg

نور العين
08-06-2011, 05:06 PM
Osteogenesis imperfecta, type IV.

other ****s:
Gene map locus 17q21.31-q22, 7q22.1
OI, type IV
OI4
Osteogenesis imperfecta with normal sclerae

Clinical features:
short stature; multiple fractures.

Inheritance:
autosomal dominant.



http://adc.bmj.com/*******/vol92/issue4/images/large/ac96552.f3.jpeg



http://www.indianpediatrics.net/images/f11174.jpg



http://www.indianpediatrics.net/images/f21174.jpg




http://www.scielo.br/img/revistas/clin/v65n6/14f01.jpg

نور العين
08-06-2011, 05:09 PM
Osteogenesis imperfecta, type V.

other ****s:
OI, type V
OI5

Clinical features:
multiple bone fractures with hyperplastic callus formation.

Inheritance:
autosomal dominant.




http://www.jpgmonline.com/articles/2006/52/2/images/jpgm_2006_52_2_152_25169_3.jpg



http://jkms.org/ArticleImage/0063JKMS/jkms-21-709-g004-l.jpg

نور العين
08-06-2011, 05:19 PM
Osteopetrosis, autosomal recessive.

other ****s:
Albers-Schonberg disease, autosomal recessive
Marble bones, autosomal recessive.

Clinical features:
macrocephaly; progressive deafness and blindness; hepatosplenomegaly; severe anemia.

Inheritance:
autosomal recessive.


http://www.nature.com/bmt/journal/v29/n6/images/1703416f1.jpg



http://www.nature.com/bmt/journal/v29/n6/images/1703416f4.jpg

نور العين
08-06-2011, 05:26 PM
Osteopetrosis, autosomal recessive 1

other ****s:
Gene map locus 11q13.4-q13.5
Albers-Schonberg disease, autosomal recessive
Marble bones, autosomal recessive
OPTB1
Osteopetrosis, infantile malignant 1

Clinical features:
macrocephaly; progressive deafness and blindness; hepatosplenomegaly; severe anemia.

Inheritance:
autosomal recessive.



http://www.nature.com/ng/journal/v25/n3/images/ng0700_343_F1.gif
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

نور العين
08-06-2011, 05:30 PM
Osteopetrosis, autosomal recessive 3.

other ****s:
Gene map locus 8q22
Carbonic anhydrase II deficiency
Guibaud-Vainsel syndrome
Marble brain disease
OPTB3
Osteopetrosis with renal tubular acidosis

Clinical features:
osteopetrosis; short stature; intracerebral calcification; renal tubular acidosis.

Inheritance:
autosomal recessive.



http://bloodjournal.hematologylibrary.org/*******/vol97/issue7/images/large/h80710865001.jpeg



http://www.indianpediatrics.net/june2009/images/cr4-1.jpg




http://www.jpgmonline.com/articles/2010/56/4/images/jpgm_2010_56_4_290_70944_f2.jpg

نور العين
08-06-2011, 05:33 PM
Osteopetrosis, autosomal dominant, type I.

other ****s:
Gene map locus 11q13.4
OPTA1

Clinical features:
generalized osteosclerosis most pronounced in the cranial vault.

Inheritance:
autosomal dominant.




http://jcem.endojournals.org/*******/vol84/issue3/images/large/eg0395578001.jpeg

نور العين
08-06-2011, 05:37 PM
Osteopetrosis, autosomal dominant, type II.

other ****s:
Gene map locus 16p13
Albers-Schonberg disease, autosomal dominant
Marble bones, autosomal dominant
OPTA2
Osteosclerosis fragilis generalisata.

Clinical features:
sclerosis, predominantly involving the spine, the pelvis, and the skull ****.

Inheritance:
autosomal dominant.



http://jcem.endojournals.org/*******/vol92/issue3/images/large/zeg0030748820001.jpeg




http://jcem.endojournals.org/*******/vol87/issue5/images/large/eg0528497001.jpeg

نور العين
08-06-2011, 05:46 PM
Papillon-Lefevre syndrome.

other ****s:
Gene map locus 11q14.1-q14.3
Keratosis palmoplantaris with periodontopathia
PALS
PLS.

Clinical features:
palmoplantar hyperkeratosis; periodontitis; premature loss of the primary and secondary dentitions.

Inheritance:
autosomal recessive.



http://www.biomedcentral.com/*******/figures/1471-2350-4-5-1-l.jpg



http://www.jisppd.com/articles/2008/26/2/images/JIndianSocPedodPrevDent_2008_26_2_78_41622_1.jpg



http://www.jisppd.com/articles/2008/26/2/images/JIndianSocPedodPrevDent_2008_26_2_78_41622_3.jpg

نور العين
08-06-2011, 05:54 PM
Parry-Romberg syndrome.

other ****s:
HFA
Hemifacial atrophy, progressive.

Clinical features:
slowly progressive atrophy of the soft tissues of essentially half the face; contralateral Jacksonian epilepsy; trigeminal neuralgia; changes in the eyes and hair.

Inheritance:
isolated cases.


http://scielo.isciii.es/img/revistas/medicorpa/v11n2/03i.ht1.jpg



http://archopht.ama-assn.org/*******/vol116/issue9/images/medium/ecp8057f1.jpg



http://dermatology-s10.cdlib.org/1410/allarticles/articles/21_1.jpg



http://dermatology-s10.cdlib.org/1410/allarticles/articles/21_2.jpg




http://jnnp.bmj.com/*******/vol70/issue4/images/large/00484.f2.jpeg
Neurology in ancient faces

نور العين
08-06-2011, 06:01 PM
Porphyria cutanea tarda.

other ****s:
Gene map locus 1p34
PCT
Porphyria, hepatocutaneous type
UROD deficiency
Uroporphyrinogen decarboxylase deficiency.

Clinical features:
light-sensitive dermatitis; excretion of large amounts of uroporphyrin in urine.

Inheritance:
autosomal dominant.


http://dermis.multimedica.de/bilder/CD013/550px/img0007.jpg




http://www.scielo.br/img/revistas/abd/v81n6/en_a10fig4.gif



http://www.dartmouth.edu/~thabif/weeklyclinic111901/pictures/19porphyriact.jpg

نور العين
09-06-2011, 04:42 PM
Primary failure of eruption.

other ****s:
Eruption, primary failure
Primary failure of tooth eruption.

Clinical features:
tooth eruption failure.

Inheritance:
.......................





http://www.scielo.br/img/revistas/bdj/v18n2/v18a11f01.jpg




http://ejo.oxfordjournals.org/*******/vol28/issue6/images/large/eorthocjl033f01_ht.jpeg

نور العين
09-06-2011, 05:00 PM
Pseudohypoparathyroidism, type Ia

other ****s:
Gene map locus 20q13.2
Albright hereditary osteodystrophy with multiple hormone resistance
PHP1a.

Clinical features:
AHO features; multiple hormone resistance; decreased cellular cAMP response to PTH infusion; decreased erythrocyte Gs activity; GNAS1 mutation in the maternally-derived allele.

Inheritance:
autosomal dominant.



http://archpedi.ama-assn.org/*******/vol162/issue11/images/medium/ppm80002f2.jpg




http://archpedi.ama-assn.org/*******/vol162/issue11/images/medium/ppm80002f1.jpg



http://www.jisppd.com/articles/2009/27/3/images/JIndianSocPedodPrevDent_2009_27_3_184_57101_u5.jpg

نور العين
09-06-2011, 05:04 PM
Pyknodysostosis.

other ****s:
Gene map locus 1q21
PKND
PYCD
Pycnodysostosis.

Clinical features:
osteosclerosis; bone fragility; short stature; large open fontanelles; obtuse mandibular angle; clavicular dysplasia; hypoplastic or aplastic distal phalanges.

Inheritance:
autosomal recessive.





http://www.jisppd.com/articles/2008/26/5/images/JIndianSocPedodPrevDent_2008_26_5_23_41750_6.jpg



http://www.jisppd.com/articles/2008/26/5/images/JIndianSocPedodPrevDent_2008_26_5_23_41750_2.jpg



http://www.jisppd.com/articles/2008/26/5/images/JIndianSocPedodPrevDent_2008_26_5_23_41750_3.jpg




http://www.ajnr.org/*******/vol28/issue1/images/large/zj40010702840001.jpeg

نور العين
09-06-2011, 05:12 PM
Pyle disease.

other ****s:
****physeal dysplasia

Clinical features:
genu valgum; ****physeal anomalies with broadening of the long bones extending into the diaphyses; widening of the ribs and clavicles; platyspondyly; cortical thinning.

Inheritance:
autosomal recessive.



http://dmfr.birjournals.org/*******/vol35/issue1/images/large/161745f1.jpeg



http://dmfr.birjournals.org/*******/vol35/issue1/images/large/161745f2.jpeg



http://www.indianpediatrics.net/apr2008/images/cr1-2.jpg

نور العين
09-06-2011, 05:22 PM
Regional odontodysplasia.

other ****s:
Odontodysplasia, regional.

Clinical features:
localized developmental anomaly of the dental tissues; ectodermal and mesodermal tooth components are affected.

Inheritance:
.....................



http://www.nature.com/bdj/journal/v186/n10/images/4800157-f1.jpg




http://www.scielo.br/img/revistas/jaos/v15n6/a02fig02.jpg




http://www.scielo.br/img/revistas/jaos/v15n6/a02fig08.jpg

نور العين
09-06-2011, 05:30 PM
Robinow syndrome.

other ****s:
Acral dysostosis with facial and genital abnormalities
Fetal face syndrome
Robinow dwarfism.

Clinical features:
fetal face; hypertelorism; prominent eyes; broad nasal root; broad forehead; orodental abnormalities; mesomelic or acromesomelic limb shortening; small hands; broad thumbs and toes; bifid terminal phalanges; kyphoscoliosis; hypoplastic genitalia.

Inheritance:
.....................


http://jmg.bmj.com/*******/vol39/issue5/images/large/01210.f3.jpeg




http://img.medscape.com/pi/emed/ckb/pediatrics_genetics/941088-943343-557.jpg

نور العين
10-06-2011, 02:53 PM
Sickle cell anemia.

other ****s:
Gene map locus 11p15.5
Anemia, sickle cell
Hemoglobin S disease
Sickle cell disease.

Clinical features:
sickle-shaped red blood cells; chronic hemolytic anemia; vaso-occlusive crises resulting in ischemia, painful episodes, and multiple organ damage.

Inheritance:
autosomal recessive.



http://www.jisppd.com/articles/2007/25/3/images/JIndianSocPedodPrevDent_2007_25_3_140_36566_1.jpg


http://www.jisppd.com/articles/2007/25/3/images/JIndianSocPedodPrevDent_2007_25_3_140_36566_4.jpg

نور العين
11-06-2011, 12:10 PM
Split-hand/foot malformation with sensorineural hearing loss.

other ****s:
Gene map locus 7q21.2-q21.3
Deafness, congenital, and split hands and feet
SHFM1D.

Clinical features:
Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3.

Inheritance:
.......................




http://hmg.oxfordjournals.org/*******/12/suppl_1/R51/F1.small.gif




http://jmg.bmj.com/*******/vol38/issue6/images/large/00220.f3.jpeg

نور العين
11-06-2011, 12:17 PM
Sturge-***er syndrome.

other ****s:
Encephalofacial hemangiomatosis syndrome
Meningofacial angiomatosis - cerebral calcification syndrome
Neuroretinoangiomatosis
SWS
Sturge disease.
Sturge-***er-Krabbe syndrome.

Clinical features:
facial port wine stain; leptomeningeal angioma; glaucoma.

Inheritance:
isolated cases.




http://img.medscape.com/pi/emed/ckb/dermatology/1048885-1094517-1140.jpg
A port-wine stain in a patient with Sturge-***er syndrome.



http://www.casesjournal.com/*******/figures/1757-1626-2-9394-1.jpg




http://www.cmaj.ca/*******/vol170/issue11/images/large/26ff1.jpeg




http://www.mrcophth.com/eyeanddermatology/sturge***ersyndrome.JPG



http://www.jisppd.com/articles/2008/26/5/images/JIndianSocPedodPrevDent_2008_26_5_29_41752_4.jpg

نور العين
11-06-2011, 12:20 PM
Syngnathia.

other ****s:
CPLS syndrome
Cleft palate-lateral synechia syndrome

Clinical features:
congenital fusion of the maxilla and mandible.

Inheritance:
autosomal dominant.




http://www.ispub.com/ispub/ijps/volume_4_number_1_44/syngnathia_without_any_other_associated_anomaly_a_ very_rare_case_report/syngnathia-fig2.jpg



http://www.afrjpaedsurg.org/articles/2008/5/2/images/AfrJPaediatrSurg_2008_5_2_90_44185_u2.jpg



http://www.ispub.com/ispub/ijps/volume_4_number_1_44/syngnathia_without_any_other_associated_anomaly_a_ very_rare_case_report/syngnathia-fig4.jpg

نور العين
11-06-2011, 12:30 PM
Syphilis, congenital.

other ****s:
.........................

Clinical features:
increased risk of miscarriage, stillbirth, or premature delivery; hepatomegaly; splenomegaly; blistering skin rash; bone changes seen on X-ray]

Inheritance:
.......................



http://neuromuscular.wustl.edu/pics/people/patients/syphcongsm.jpg



http://www.duke.edu/~ema5/Golian/Slides/6/InfDis-Bacteria7_files/Id240.jpg
Hutchinson's teeth in case of congenital syphilis.

نور العين
11-06-2011, 12:47 PM
Talon cusp.

other ****s:
............................

Clinical features:
accessory cusplike structure projecting from the cingulum area or cemento e****l junction of the maxillary or mandibular anterior teeth.

Inheritance:
.......................




http://www.jisppd.com/articles/2005/23/2/images/JIndianSocPedodPrevDent_2005_23_2_89_16449_1.jpg




http://www.jisppd.com/articles/2005/23/2/images/JIndianSocPedodPrevDent_2005_23_2_89_16449_2.jpg




http://www.jisppd.com/articles/2006/24/5/images/JIndianSocPedodPrevDent_2006_24_5_7_26028_4.jpg




http://www.jisppd.com/articles/2007/25/1/images/JIndianSocPedodPrevDent_2007_25_1_52_31993_5.jpg



http://www.jisppd.com/articles/2006/24/5/images/JIndianSocPedodPrevDent_2006_24_5_7_26028_2.jpg

نور العين
11-06-2011, 12:52 PM
Teeth present at birth.

other ****s:
Natal teeth.

Clinical features:
Natal teeth are teeth present at birth and neonatal teeth are teeth that erupt within a month after delivery.

Inheritance:
autosomal dominant.




http://www.jomfp.in/articles/2009/13/1/images/JOralMaxillofacPathol_2009_13_1_41_44574_f1.jpg



http://3.bp.blogspot.com/-VGj2TZQWAUo/TZa6zt5n23I/AAAAAAAAASg/v1iNzpnZU9Q/s1600/Natal-Teeth-Treatments-Causes-Pictures-Emedicine-Management-Dental-Tooth-Care-Cures-Whitening-Tips-Facts-Guide.jpg




http://img.tfd.com/mosby/thumbs/500221-fx16.jpg

نور العين
12-06-2011, 06:00 PM
Tooth agenesis, selective, 1.

other ****s:
Gene map locus 4p16.1
HYD1
Hypodontia with orofacial cleft
Hypodontia/oligodontia 1
STHAG1
Second premolars and third molars, absence of
Tooth agenesis, familial.

Clinical features:
most commonly affected are third molars, followed by either upper lateral incisors or lower second premolars.

Inheritance:
.......................



http://jdr.iadrjournals.org/*******/vol81/issue4/images/large/002683.jpeg

نور العين
12-06-2011, 06:23 PM
Tooth agenesis, selective, 2.

other ****s:
Gene map locus 16q12.1
HYD2
Hypodontia/oligodontia 2
STHAG2

Clinical features:
hypodontia associated with dental anomalies such as malformation, e****l hypoplasia, and failure of eruption.


Inheritance:
.......................

نور العين
12-06-2011, 06:25 PM
Tooth agenesis, selective, 3.

other ****s:
Gene map locus 14q12-q13
Hypodontia/Oligodontia 3
STHAG3

Clinical features:
agenesis of permanent teeth.

Inheritance:
autosomal dominant.




http://jdr.iadrjournals.org/*******/vol85/issue3/images/large/050017-1.jpeg




http://www.nature.com/ejhg/journal/v11/n11/images/5201060f2.jpg

نور العين
13-06-2011, 12:46 PM
Treacher Collins syndrome.

other ****s:
Gene map locus 5q32-q33.1
MFD1
Mandibulofacial dysostosis
TCOF
TCS
Treacher Collins-Franceschetti syndrome.

Clinical features:
antimongoloid slant of the eyes; coloboma of the lid; micrognathia; microtia; hypoplastic zygomatic arches; macrostomia.

Inheritance:
autosomal dominant.




http://www.thecraniofacialcenter.org/images/tc_traits.gif




http://www.cda-adc.ca/jcda/vol-67/issue-10/graphics/Fig6_4459.jpg




http://img.medscape.com/pi/emed/ckb/pediatrics_genetics/941088-946143-1581.jpg




http://img.medscape.com/pi/emed/ckb/pediatrics_genetics/941088-946143-1580.jpg



http://img.medscape.com/pi/emed/ckb/pediatrics_genetics/941088-946143-2066.jpg

نور العين
13-06-2011, 12:57 PM
Trichodentoosseous syndrome.

other ****s:
Gene map locus 17q21.3-q22
TDO syndrome.

Clinical features:
curly hair at birth; e****l hypoplasia; taurodontism; thick cortical bone.

Inheritance:
autosomal dominant.




http://jdr.sagepub.com/*******/vol87/issue4/images/large/070261-3.jpeg




http://jdr.sagepub.com/*******/vol87/issue4/images/large/070261-2.jpeg




http://www.dentistry.unc.edu/research/defects/images/figures/tds_fig1.jpg

نور العين
13-06-2011, 01:11 PM
Trichorhinophalangeal syndrome, type I.

other ****s:
Gene map locus 8q24.12
TRPS1.

Clinical features:
short stature; sparse scalp hair; pear-shaped nose; long flat philtrum; thin upper vermilion border; protruding ears; cone-shaped epiphyses at the phalanges; hip malformations.

Inheritance:
autosomal dominant.





http://www.scielo.br/img/revistas/abd/v80n1/ia12f02.jpg




http://www.scielo.br/img/revistas/abd/v80n1/ia12f03.jpg




http://www.john-libbey-euro****.fr/en/revues/medecine/ejd/e-docs/00/01/88/97/media_fig1.gif



http://www.jisppd.com/articles/2007/25/1/images/JIndianSocPedodPrevDent_2007_25_1_43_31990_3.jpg

نور العين
18-06-2011, 06:37 PM
Trisomy 21.

other ****s:
Gene map locus 1q43, Xp11.23, etc.
DCR
DSCR
Down syndrome
Down syndrome chromosome region
Down syndrome critical region.

Clinical features:
characteristic facies; hypotonia; mental retardation.

Inheritance:
isolated cases.



http://img.medscape.com/pi/emed/ckb/pediatrics_genetics/941088-943216-180.jpg



http://www.scielo.br/img/revistas/bdj/v18n4/v18a14f01.gif



http://img.medscape.com/pi/emed/ckb/dermatology/1048885-1113071-1590.jpg
hypotonia in Down syndrome patient



http://dermatology.cdlib.org/1702/2_photo_essay_and_review/3_10-00333/5.jpg




http://dermatology.cdlib.org/1702/2_photo_essay_and_review/3_10-00333/7.jpg

نور العين
18-06-2011, 06:57 PM
Tuberous sclerosis.

other ****s:
Gene map locus 16p13.3, 9q34
Bourneville disease
Bourneville phakomatosis
Epiloia
TS
TSC
Tuberose sclerosis
Tuberous sclerosis complex.

Clinical features:
hamartomata in multiple organ systems; epilepsy; learning difficulties; behavioral problems; skin and renal lesions.

Inheritance:
autosomal dominant.


http://www.nlm.nih.gov/medlineplus/ency/images/ency/fullsize/2367.jpg




http://dermatology.cdlib.org/103/NYU/case_presentations/images/042004-8bb.jpg




http://dermatology.cdlib.org/103/NYU/case_presentations/images/042004-8cc.jpg




http://www.skinatlas.com/Tuberous2.jpg




http://www.ijdvl.com/articles/2007/73/6/images/ijdvl_2007_73_6_412_37061_2.jpg




http://www.ijdr.in/articles/2010/21/1/images/IndianJDentRes_2010_21_1_138_62793_f1.jpg



http://dermatology.cdlib.org/103/NYU/case_presentations/images/042004-8aa.jpg

د.جيهان
12-07-2011, 11:09 AM
اين انتِ يا نور العين ؟ غائبة من فترة
ان شاء الله يكون المانع خير وترجعي بالسلامة

نور العين
17-07-2011, 01:45 PM
اين انتِ يا نور العين ؟ غائبة من فترة
ان شاء الله يكون المانع خير وترجعي بالسلامة

شكر لسؤالك د.جيهان الغاليه
بالنسبه للغيابي عن المنتدى لظروف ****************

نور العين
17-07-2011, 01:50 PM
Van der Woude syndrome.

other ****s:
Gene map locus 1q32-q41
Cleft lip and/or palate with mucous cysts of lower lip
LPS
Lip-pit syndrome
PIT
VDWS
VWS.

Clinical features:
pits and/or sinuses of the lower lip; cleft lip and/or cleft palate.

Inheritance:
autosomal dominant.



http://img.medscape.com/pi/emed/ckb/pediatrics_genetics/941088-941089-950823-950879.jpg



http://jmg.bmj.com/*******/vol41/issue2/images/large/mg9274.f1.jpeg




http://www.jisppd.com/articles/2010/28/2/images/JIndianSocPedodPrevDent_2010_28_2_104_66749_u1.jpg



http://www.jisppd.com/articles/2008/26/2/images/JIndianSocPedodPrevDent_2008_26_2_88_41625_1.jpg

نور العين
26-07-2011, 05:16 PM
Walker-Warburg syndrome.

other ****s:
Gene map locus 14q24.3, 9q34.1, etc.
COD
Cerebroocular dysgenesis
Cerebroocular dysplasia - muscular dystrophy syndrome
Chemke syndrome
HARD syndrome
Hydrocephalus, agyria, and retinal dysplasia
Pagon syndrome
Warburg syndrome.

Clinical features:
hydrocephalus, agyria, retinal dysplasia, with or without encephalocele.

Inheritance:
autosomal recessive.



http://www.ijo.in/articles/2002/50/4/images/IndianJOphthalmol_2002_50_4_322_14757_1.jpg


http://jmg.bmj.com/*******/vol42/issue12/images/large/mg31963.f2.jpeg

نور العين
26-07-2011, 07:08 PM
White sponge nevus of Cannon.

other ****s:
Gene map locus 17q21-q22, 12q13
Leukokeratosis, hereditary mucosal
WSN
White sponge nevus.

Clinical features:
thickened spongy-fold mucosa with a white opalescent tint in the mouth; vaginal, rectal and nasal leukokeratosis.

Inheritance:
autosomal dominant.



http://dermatology.cdlib.org/145/nyu/cases/112106_3a.jpg



http://dermatology.cdlib.org/145/nyu/cases/112106_3b.jpg



http://www.jisppd.com/articles/2008/26/3/images/JIndianSocPedodPrevDent_2008_26_3_125_43194_u4.jpg



http://www.jisppd.com/articles/2008/26/3/images/JIndianSocPedodPrevDent_2008_26_3_125_43194_u3.jpg

نور العين
26-07-2011, 07:23 PM
Williams-Beuren syndrome.

other ****s:
Gene map locus 7q11.23
Chromosome 7q11.23 deletion syndrome
WBS
WMS
WS
Williams syndrome.

Clinical features:
mental retardation; peculiar cognitive profile; dysmorphic facies; supravalvular aortic stenosis; infantile hypercalcemia; growth deficiency.

Inheritance:
most cases are sporadic.




http://ejo.oxfordjournals.org/*******/vol29/issue4/images/large/eorthocjm031f05_4c.jpeg


http://ejo.oxfordjournals.org/*******/vol29/issue4/images/large/eorthocjm031f03_4c.jpeg


http://www.jpbuzz.com/wp-*******/uploads/2011/06/Williams-Syndrome-children-pictures-face-nose.jpg

نور العين
30-12-2011, 01:57 PM
Witkop syndrome

other ****s:
Gene map locus 4p16.1
Nail dysplasia with hypodontia
TNS
Tooth-and-nail syndrome

Clinical features:
nail dysplasia; congenitally missing permanent and/or primary teeth.

Inheritance:
autosomal dominant.



http://www.jisppd.com/articles/2008/26/1/images/JIndianSocPedodPrevDent_2008_26_1_22_40317_2.jpg




http://www.jisppd.com/articles/2008/26/1/images/JIndianSocPedodPrevDent_2008_26_1_22_40317_8.jpg






http://download.ajhg.org/images/journalimages/0002-9297/PIIS0002929707614463.gr1_lrg.hi.jpg

نور العين
30-12-2011, 02:01 PM
Wolf-Hirschhorn syndrome.

other ****s:
Gene map locus 4p16.3
Chromosome 4p16.3 deletion syndrome
PRDS
Pitt syndrome
Pitt-Rogers-Danks syndrome
WHS.

Clinical features:
severe mental and growth retardation; microcephaly; seizures; craniofacial anomalies; cardiac septal defects.

Inheritance:
isolated cases.



http://jdr.iadrjournals.org/*******/vol82/issue12/images/large/03-0071.jpeg




http://pediatrics.aappublications.org/*******/vol103/issue4/images/large/pe0493661003.jpeg





http://pediatrics.aappublications.org/*******/vol103/issue4/images/large/pe0493661002.jpeg

sabaa
30-12-2011, 02:07 PM
لماذا لم يتم وضع الموضوع بالفرنسية لتعم الفائدة على الجميع.نحن ندرس باللغة الفرنسية

نور العين
30-12-2011, 02:28 PM
تم عرض الموضوع باللغه الانجليزيه لانها اللغه الاكثر استخدام في مجال الطب


ولكن ان شاء الله ساحاول عرضه مجددا باللغه الفرنسيه :)

نور العين
30-12-2011, 02:37 PM
Xanthinuria, type II.

other ****s:
Xanthine dehydrogenase and aldehyde oxidase, combined deficiency

Clinical features:
xanthine calculi; hematuria; renal colic.

Inheritance:
autosomal recessive.



http://jmg.bmj.com/*******/vol40/issue11/images/large/mg9753.f1.jpeg