Author:
Inoue Yoshikazu,Sakamoto Yoshiaki,Sugimoto Masanori,Inagaki Hidehito,Boda Hiroko,Miyata Masafumi,Kato Hideteru,Kurahashi Hiroki,Okumoto Takayuki
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.
Subject
Otorhinolaryngology,Oral Surgery
Cited by
4 articles.
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