Prenatal diagnosis of Blepharo-Cheilo-Dontic syndrome: a case report.

Abstract excerpt

This case report describes the prenatal diagnosis of the extremely rare Blepharo-Cheilo-Dontic syndrome. After sonographic diagnosis of the bilateral cleft lip and palate and the persistent open eyelids, amniocentesis with subsequent molecular genetics confirmed the sonographically presumed de-novo mutation of the CDH1 gene and the Blepharo-Cheilo-Dontic Syndrome. After multidisciplinary counseling the patients...

Topics

Join the communities discussing this publication.

• Amniocentesis
• Cadherins
• Cleft Lip
• Cleft Palate
• Eyelids
• Mutation