Congenital hepatic fibrosis, cystic kidneys, mental retardation, and facial dysmorphy: a new report of an autosomal recessive syndrome.
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.
Service de Pédiatrie, Hôpital Antoine Béclère, Clamart, France.
P
P
Labrune
J C
JC
Lange
P
P
Bedossa
J L
JL
Chaussain
M
M
Odievre
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005146:Facial Asymmetry / Q000151:congenital; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D052177:Kidney Diseases, Cystic / Q000151:congenital; D008103:Liver Cirrhosis / Q000151:congenital; D008297:Male; D014463:Ultrasonography