Hepatic fibrosis in Kabuki syndrome.

TitleHepatic fibrosis in Kabuki syndrome.
Publication TypeJournal Article
Year of Publication2004
AuthorsNobili V, Marcellini M, Devito R, Capolino R, Viola L, Digilio MC
JournalAmerican journal of medical genetics. Part A
Date Published2004 Jan 15

Kabuki (Niikawa-Kuroki) syndrome (KS) is characterized by a distinctive face, mental retardation, growth deficiency, skeletal anomalies, dermatoglyphic abnormalities, palatal anomalies, congenitali heart defects, and urogenital malformations. Congenital hepatic abnormalities have been sporadically described in patients with KS from the literature, consisting of extrahepatic biliaryi atresiai, neonatal sclerosing cholangitis, and severe neonatal jaundicei. We report here on an additional patient with a congenital abnormality of the liver consisting of hepatic fibrosis. To our knowledge, idiopathici congenital hepatic fibrosis has not been reported in KS. Thus, our observation expands the spectrum of liver malformations found in KS with the inclusion of hepatic fibrosis and supports the evidence that hepatic abnormalities may not be uncommon in KS. Clinician should be advised to search for the specific facial anomalies of KS in patients with syndromic congenital hepatic diseases, and KS should be added to the list of previously recognized multiple congenital anomalyi syndromes with hepatic involvement. Due to the frequent association with congenital heart malformations, KS should be considered in the evaluation of patients with neonatal liver disease and cardiac malformation. Due to the expression patterns of Notch genesi, involvement of the Notch signaling pathway in the development of heart and liver anomalies in KS should be considered.

Alternate JournalAm. J. Med. Genet. A
Citation Key14699623