| Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis. | |
| | |
MedLine Citation:
|
PMID: 20503327 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Cerebral, ocular, dental, auricular, skeletal syndrome (CODAS, OMIM 600373) is a very rare congenital malformation syndrome. This clinical entity is highly distinctive and associates mental retardation, cataract, enamel abnormalities, malformations of the helix, epiphyseal and vertebral malformations, and characteristic dysmorphic features. Since 1991, only three affected children have been reported. The etiology and pattern of inheritance of CODAS syndrome still remain unknown. We describe a new sporadic case presenting with all the characteristic features of CODAS syndrome associated with previously unreported malformations of the heart, larynx, and liver. All investigations such as karyotype, metabolic screening and array CGH were normal. |
| | |
Authors:
|
S Marlin; H Ducou Le Pointe; M Le Merrer; M F Portnoi; S Chantot; L Jonard; A Mantel-Guiochon; J P Siffroi; E N Garabedian; F Denoyelle |
Related Documents
:
|
16035717 - Recalcitrant scoliosis in proteus syndrome. 3619717 - Agenesis of the corpus callosum and limbic malformation in apert syndrome (type i acroc... 6708197 - Testicular lymphangiectasis in noonan's syndrome. 9055487 - Wilm's tumour with wagr complex. 1490217 - Acromioclavicular disruption in first class rugby players. 10526937 - Immunopathology of anca-associated vasculitis. |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Jun |
Date Detail:
|
Created Date: 2010-05-26 Completed Date: 2010-08-30 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
|
Languages: eng Pagination: 1510-4 Citation Subset: IM |
Copyright Information:
|
(c) 2010 Wiley-Liss, Inc. |
Affiliation:
|
Service de Génétique, Hôpital Trousseau, APHP, Paris, France. sandrine.marlin@trs.aphp.fr |
| Data Bank Information | |
Bank Name/Acc. No.:
|
OMIM/600373 |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple
/
diagnosis*,
genetics Bone and Bones / abnormalities* Cataract / congenital, diagnosis*, genetics Cerebral Cortex / abnormalities* Child, Preschool Heart Atria / abnormalities* Humans Male Mental Retardation / diagnosis*, genetics Muscle, Skeletal / abnormalities* Syndrome Tooth Abnormalities / diagnosis*, genetics |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: The course of cognitive-behavioral development in children with the FMR1 mutation, Williams-Beuren s...
Next Document: Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 and cryptic 9q34 du...