Arteriohepatic dysplasia: Familial pulmonary arterial stenosis with neonatal liver disease (original) (raw)

Abstract

A new syndrome is described of which the salient features are (1) congenital hypoplasia and stenoses of the pulmonary arteries, sometimes with associated cardiovascular malformations; (2) neonatal liver disease, commonly with obstructive jaundice and resembling biliary atresia or neonatal hepatitis, but sometimes apparent only as mild persistent hepatic dysfunction; and (3) various minor congenital anomalies, including an odd facies. There is a familial tendency suggesting autosomal dominant inheritance, with variable penetrance.

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Selected References

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