Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur

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, a mesosystolic murmur, vertebral arch defects, growth retardation, mental retardation, and...

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Veröffentlicht in:	The Journal of pediatrics 1975, Vol.86 (1), p.63-71
Hauptverfasser:	Alagille, D., Odièvre, M., Gautier, M., Dommergues, J.P.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple Adolescent Bile Ducts - pathology Bile Ducts, Intrahepatic - abnormalities Biopsy, Needle Child Child, Preschool Cholestasis - complications Cholestasis - pathology Face Female Growth Disorders - complications Heart Auscultation Heart Murmurs Humans Hypogonadism - complications Infant Intellectual Disability - complications Male Pedigree Spinal Dysraphism - complications Spinal Dysraphism - pathology Syndrome Testis - pathology Xanthogranuloma, Juvenile - complications Xanthogranuloma, Juvenile - pathology
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Beschreibung
Zusammenfassung:	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, a mesosystolic murmur, vertebral arch defects, growth retardation, mental retardation, and hypogonadism. Typical biochemical and histologic features aid in differentiation of this group from patients with other varieties of biliary disease.
ISSN:	0022-3476 1097-6833
DOI:	10.1016/S0022-3476(75)80706-2