title: Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis.
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.
authors.affiliation: Service de Génétique, Hôpital Trousseau, APHP, Paris, France. sandrine.marlin@trs.aphp.fr
authors.forename: S
authors.initials: S
authors.lastname: Marlin
authors.forename: H
authors.initials: H
authors.lastname: Ducou Le Pointe
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: M F
authors.initials: MF
authors.lastname: Portnoi
authors.forename: S
authors.initials: S
authors.lastname: Chantot
authors.forename: L
authors.initials: L
authors.lastname: Jonard
authors.forename: A
authors.initials: A
authors.lastname: Mantel-Guiochon
authors.forename: J P
authors.initials: JP
authors.lastname: Siffroi
authors.forename: E N
authors.initials: EN
authors.lastname: Garabedian
authors.forename: F
authors.initials: F
authors.lastname: Denoyelle
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities*; D002386:Cataract / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics; D002540:Cerebral Cortex / Q000002:abnormalities*; D002675:Child, Preschool; D006325:Heart Atria / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D018482:Muscle, Skeletal / Q000002:abnormalities*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000175:diagnosis* / Q000235:genetics