Clinical Characteristics

Major clinical features include:

•    Hepatic abnormalities(95% of individuals). This includes bile duct paucity, conjugated hyperbilirubinemia, chronic cholestasis characterized by pruritus, xanthomas, and fat-soluble vitamin deficiencies, and end-stage liver disease
•    Cardiac defects (90-97% of individuals). This most commonly includes stenosis of the peripheral pulmonary artery and its branches and tetralogy of Fallot.
•    Skeletal abnormalities(33-93% of individuals). This most commonly includes butterfly vertebrae identified in AP chest radiographs.
•    Ophthalmologic abnormalities(78%-89% of individuals). This most commonly includes posterior embryotoxon.
•    Characteristic facial features(90-95% of individuals). This includes a triangular-shaped face with a broad forehead and a pointed chin, bulbous tip of the nose, deep-set eyes, and hypertelorism.

Renal and vascular manifestastions also occur in a minority of patients. Renal manifestations include functional and structural anomalies. Vascular manifestations include intracranial bleeds, systemic vascular anomalies, moyamoya disease, and others.