שאלה משלב א׳ בפתולוגיה אבחנתית · מועד 2026, שאלה 60

ALAGILLE SYNDROME (JAG1 or NOTCH2 mutation) is associated with TETRALOGY OF FALLOT and with peripheral pulmonary artery stenosis, together with bile duct paucity and cholestasis, butterfly vertebrae, posterior embryotoxon and a characteristic facies. Ventricular septal defect, patent ductus and hypoplastic left heart are not its typical lesions.