Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur.
作者： D. Alagille , M. Odièvre , M. Gautier , J.P. Dommergues
DOI: 10.1016/S0022-3476(75)80706-2
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摘要: Among 30 children with hepatic ductular hypoplasia and normal extrahepatic bile ducts, 15 formed a homogeneous, readily recognizable group. In addition to chronic cholestasis, they have characteristic facies, mesosystolic murmur, vertebral arch defects, growth retardation, mental hypogonadism. Typical biochemical histologic features aid in differentiation of this group from patients other varieties biliary disease.
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