Clinical features
Clinical features include:
- biliary hypoplasia, which may be associated with features of pancreatic insufficiency
- vertebral anomalies - butterfly vertebrae
- broad, prominent forehead,
- deep-set widely spaced eyes
- long straight nose
- small jaw
- pruritis
- hyperlipidamia and xanthomata
- features of vitamin E deficiency if untreated
- posterior embryotoxon - an ocular abnormality
- cardiovascular abnormalities:
- supravalvular pulmonary stenosis
- rarely, tetralogy of Fallot
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