Clinical feature
|
% of affected patients
|
Comments
|
Intrahepatic bile duct paucity | 91 | This increases in frequency with age |
Chronic cholestasis | 94 | |
Cardiac murmur or defect | 92 | Peripheral pulmonary stenosis is the most common defect but a structural cardiac defect is present in 24% |
Characteristic facies | 91 | Prominent forehead, deep set eyes, pointed chin, and a saddle or straight nose with a bulbous tip |
Eye defects | 80 | Anterior chamber defects, eg posterior embryotoxon, Axenfeld's anomoly, or Rieger anomoly, but retinal pigmentary changes and optic disc drusen have also been reported |
Skeletal abnormalities | 51 | Butterfly vertebrae |
Renal abnormalities | 40 | Renal tubular acidosis |
Growth retardation | 87 | |
Pancreatic insufficiency | 41 | Exocrine |
Chronic otitis media | 35 | |
Intracranial bleeding | 14 | |
Small bowel stenosis/atresia | 7 | |