| Autor: |
Cohen J; Department of Pediatrics, University of California, Los Angeles 90095-7088, USA., Schanen NC |
| Jazyk: |
angličtina |
| Zdroj: |
Genetic counseling (Geneva, Switzerland) [Genet Couns] 2000; Vol. 11 (2), pp. 153-6. |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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