J Pediatr 1975 Jan;86(1):63-71

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

Alagille D, Odievre M, Gautier M, Dommergues JP

Abstract

Among 30 children with hepatic ductular hypoplasia and normal extrahepatic bile
ducts, 15 formed a hemogeneous, 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.