All are features of Alagille syndrome, EXCEPT:: (A) Posterior embryotoxon, (B) Hepatocellular jaundice, (C) Peripheral pulmonary stenosis, (D) Butterfly veebrae
Answer is B. Syndromic paucity of interlobular bile ducts (Alagille syndrome) is the most common form of familial intrahepatic cholestasis. Chronic cholestasis affects 95% of patients. Peripheral pulmonic stenosis is observed in approximately 90%. Veebral arch defects are seen (e.g., butterfly veebrae, hemiveebrae, and a decrease in the interpedicular distance). Ophthalmologic examination may reveal posterior embryotoxon, retinal pigmentation, and iris strands. Ref: Sleisenger and Fordtran's Gastrointestinal and Liver Disease, 9th Edition, Page 1061