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Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis

✍ Scribed by 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

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 114 KB
Volume: 152A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33242

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✦ Synopsis

Abstract

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. © 2010 Wiley‐Liss, Inc.

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