Lambert Syndrome

Lambert et al. (1982, 1990) observed 4 sibs with branchial dysplasia, mental deficiency, clubfoot, inguinal hernia, and cholestasis due to paucity of interlobular bile ducts. Facial and ear anomalies included malar hypoplasia, macrostomia, preauricular tags, and meatal atresia. Clubfoot was present in 3 of the 4 affected sibs and hypospadias in at least 2 of the 3 affected boys. The parents were first cousins. Both were in their twenties. A distant cousin died from jaundice in the neonatal period. Liver biopsy after death showed complete intrahepatic biliary atresia. Although this syndrome has many similarities to Alagille syndrome (see 118450), an autosomal dominant, it is probably distinct.