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.
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