title: Congenital hepatic fibrosis in a child with Prader-Willi syndrome: a novel association.
abstract: Prader-Willi syndrome (PWS) is a rare genetic disorder caused by deletion or unexpression of the chromosome 15 (q 11-13). Symptomatologies include hypotonia, hyperphagia, cognitive impairment, and characteristic dysmorphic profile. Here, we report a 4-year-old boy with PWS who presented with complications of congenital hepatic fibrosis. The uniparental heterodisomy makes it unlikely that the hepatic fibrosis was caused by unmasking of a recessive mutation on the maternal chromosome 15 although we cannot exclude the possibility of a recessively inherited mutation elsewhere given the parental consanguinity. This is the first report of congenital hepatic fibrosis in PWS.
authors.forename: Ahmed
authors.initials: A
authors.lastname: Al Sarkhy
authors.forename: Saeed
authors.initials: S
authors.lastname: Hassan
authors.forename: Mona
authors.initials: M
authors.lastname: Alasmi
authors.forename: Asaad Muhammed
authors.initials: AM
authors.lastname: Assiri
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000150:complications* / Q000235:genetics; D006801:Humans; D008103:Liver Cirrhosis / Q000150:complications* / Q000235:genetics; D008297:Male; D011218:Prader-Willi Syndrome / Q000150:complications*