Inoue Yoshikazu, Sakamoto Yoshiaki, Sugimoto Masanori, Inagaki Hidehito, Boda Hiroko, Miyata Masafumi, Kato Hideteru, Kurahashi Hiroki, Okumoto Takayuki
Cleft Palate Craniofac J. 2018 Aug;55(7):1026-1029. doi: 10.1597/15-347. Epub 2018 Feb 26.
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.
颅额鼻综合征（CFNS）是一种非常罕见的遗传性疾病，其常见的身体畸形包括冠状缝早闭、眼距增宽、鼻尖裂开以及各种骨骼异常。EFNB1基因发生突变，该基因编码Eph受体酪氨酸激酶的跨膜配体ephrin家族的一员，是CFNS的病因。虽然已有家族性CFNS病例的报道，但文献中没有研究描述表现为双侧唇腭裂的家族性CFNS病例。在此，我们描述了一个日本家族，其中有3例表现为双侧唇腭裂的CFNS病例。
