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
Unknown; ten cases reported in the literature.
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
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.
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