title: A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate.
abstract: Craniofrontonasal syndrome (CFNS) is a very rare genetic disorder, the common physical malformations of which include coronal synostosis, widely spaced eyes, clefting of the nasal tip, and various skeletal anomalies. Mutations of EFNB1, which encodes a member of the ephrin family of transmembrane ligands for Eph receptor tyrosine kinases, is the cause of CFNS. Although familial CFNS cases have been reported, no studies in the literature describe familial cases of CFNS expressing bilateral cleft lip and palate. Here, we describe a Japanese family with three cases of CFNS expressing bilateral cleft lip and palate.
authors.forename: Yoshikazu
authors.initials: Y
authors.lastname: Inoue
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Sakamoto
authors.forename: Masanori
authors.initials: M
authors.lastname: Sugimoto
authors.forename: Hidehito
authors.initials: H
authors.lastname: Inagaki
authors.forename: Hiroko
authors.initials: H
authors.lastname: Boda
authors.forename: Masafumi
authors.initials: M
authors.lastname: Miyata
authors.forename: Hideteru
authors.initials: H
authors.lastname: Kato
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kurahashi
authors.forename: Takayuki
authors.initials: T
authors.lastname: Okumoto
mesh_terms: D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D036387:Ephrin-B1 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007564:Japan; D008297:Male
chemical_list: D036387:Ephrin-B1
keywords: EFNB1; bilateral cleft lip and palate; craniofrontonasal syndrome