A Family With Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome With Bilateral Cleft Lip and Palate

Yoshikazu Inoue; Yoshiaki Sakamoto; Masanori Sugimoto; Hidehito Inagaki; Hiroko Boda; Masafumi Miyata; Hideteru Kato; Hiroki Kurahashi; Takayuki Okumoto

doi:10.1597/15-347

A Family With Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome With Bilateral Cleft Lip and Palate

Yoshikazu Inoue, Yoshiaki Sakamoto, Masanori Sugimoto, Hidehito Inagaki, Hiroko Boda, Masafumi Miyata, Hideteru Kato, Hiroki Kurahashi, Takayuki Okumoto

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1026-1029
Number of pages	4
Journal	Cleft Palate-Craniofacial Journal
Volume	55
Issue number	7
DOIs	https://doi.org/10.1597/15-347
Publication status	Published - 08-2018
Externally published	Yes

All Science Journal Classification (ASJC) codes

Oral Surgery
Otorhinolaryngology

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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.",

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AU - Inoue, Yoshikazu

AU - Sakamoto, Yoshiaki

AU - Sugimoto, Masanori

AU - Inagaki, Hidehito

AU - Boda, Hiroko

AU - Miyata, Masafumi

AU - Kato, Hideteru

AU - Kurahashi, Hiroki

AU - Okumoto, Takayuki

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AB - 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.

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A Family With Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome With Bilateral Cleft Lip and Palate

Abstract

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