Branchial cleft anomaly, congenital heart disease, and biliary atresia: Goldenhar complex or Lambert syndrome?

Abstract

The features of Goldenhar complex have been well-described and classically include branchial arch abnormalities, epibulbar dermoid and vertebral abnormalities. We have identified an infant with these features in association with complex congenital heart disease and intrahepatic biliary atresia. Although Lambert described an autosomal recessive disorder with an association of biliary atresia and branchial arch abnormalities, none of those cases had epibulbar dermoid. Diagnostic considerations in this case include inclusion of biliary atresia as a new feature in the expanding spectrum of the Goldenhar complex, versus Lambert syndrome with epibulbar dermoid.

• Authors: J Cohen, N C Schanen
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 11 Issue 2 Pg. 153-6 ( 2000) ISSN: 1015-8146 [Print] Switzerland
• PMID: 10893666 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Biliary Atresia (diagnosis, genetics)
• Branchioma (diagnosis, genetics)
• Diagnosis, Differential
• Female
• Genetic Counseling
• Goldenhar Syndrome (diagnosis, genetics)
• Head and Neck Neoplasms (diagnosis, genetics)
• Heart Defects, Congenital (diagnosis, genetics)
• Humans
• Infant