Congenital hepatic fibrosis, cystic kidneys, mental retardation, and facial dysmorphy: a new report of an autosomal recessive syndrome

P Labrune; J C Lange; P Bedossa; J L Chaussain; M Odievre

doi:10.1097/00005176-199005000-00019

Congenital hepatic fibrosis, cystic kidneys, mental retardation, and facial dysmorphy: a new report of an autosomal recessive syndrome

J Pediatr Gastroenterol Nutr. 1990 May;10(4):540-3. doi: 10.1097/00005176-199005000-00019.

Authors

P Labrune¹, J C Lange, P Bedossa, J L Chaussain, M Odievre

Affiliation

¹ Service de Pédiatrie, Hôpital Antoine Béclère, Clamart, France.

PMID: 2193138
DOI: 10.1097/00005176-199005000-00019

Abstract

This report concerns a boy with congenital hepatic fibrosis, cystic kidneys, mental retardation, and minor dysmorphic features. These symptoms have rarely been reported before and indicate that congenital hepatic fibrosis may not be a single clinical entity.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Child, Preschool
Chromosome Aberrations*
Chromosome Disorders*
Facial Asymmetry / congenital
Humans
Intellectual Disability / genetics
Kidney Diseases, Cystic / congenital
Liver Cirrhosis / congenital
Male
Ultrasonography