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 journalArticlepeer-review

2 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 languageEnglish
JournalCleft Palate-Craniofacial Journal
DOIs
Publication statusAccepted/In press - 2018

All Science Journal Classification (ASJC) codes

  • Oral Surgery
  • Otorhinolaryngology

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