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Inherited polymalformative syndrome characterized by the association of branchial arch dysplasia, clubfoot, inguinal hernia, and intrahepatic biliary atresia.

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Branchial Dysplasia Club Foot Inguinal Hernia Biliary Atresia Syndrome.

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Unknown; ten cases reported in the literature.

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Autosomal recessive.

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Abnormal development of the first and second branchial arches. Liver biopsy shows paucity of interlobular bile ducts.

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Familial occurrence of branchial dysplasia in association with cholestasis.

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Patients with Lambert syndrome present with facial dysmorphism related principally to abnormal development of the first branchial arch (malar hypoplasia, macrostomia, preauricular tags, and/or auricular atresia). Other malformation may include clubfeet, inguinal hernia, and hypospadias. Congenital heart defects (e.g., ventricular septal defect) have been reported. Patients develop cholestatic jaundice related to a paucity of intrahepatic biliary ducts and moderate-to-severe mental retardation.

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Assess airway and cardiac and liver function. Check coagulation profile.

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Because of facial dysmorphism, direct laryngoscopy and tracheal intubation might be difficult.

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Determined by liver function tests.

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Alagille Syndrome: Characterized by neonatal jaundice, ophthalmologic anomalies (e.g., posterior embryotoxon and retinal pigmentary changes), pulmonary valvular stenosis, peripheral arterial stenosis, “butterfly” vertebrae on x-ray film, absent deep tendon reflexes, broad forehead, and pointed mandible and bulbous nose.

Lambert JC, Saint-Paul MC, Bastiani F, et al: Branchial dysplasia, mental deficiency, club feet and inguinal herniae: A report of two further cases associated with paucity of interlobular bile ducts. J Med Genet 27:330, 1990.  [PubMed: 2352262]

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