++
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.
++
++
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.
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]