Lambert Syndrome

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

Branchial Dysplasia Club Foot Inguinal Hernia Biliary Atresia Syndrome.

Unknown; ten cases reported in the literature.

Autosomal recessive.

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

Familial occurrence of branchial dysplasia in association with cholestasis.

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.

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

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

Determined by liver function tests.

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.