A Familial Case of Saethre-Chotzen Syndrome in Japan

Q Medicine

Neurosurgery Quarterly Pub Date : 2016-02-01 DOI:10.1097/WNQ.0000000000000131

N. Mitsukawa, Takashi Hayashi, K. Satoh

引用次数: 0

Abstract

Saethre-Chotzen syndrome is extremely rare in Japan. We experienced a familial case of Saethre-Chotzen syndrome in 4 individuals of 3 generations. In all 4 individuals, a mutation in the TWIST gene was observed by a gene test. Some of these patients underwent surgical correction of brachycephaly and blepharoptosis with good results.

查看原文本刊更多论文

日本家族性三甲综合征1例

saethree - chotzen综合征在日本极为罕见。我们经历了一个家族病例saethree - chotzen综合征在4个人3代。在所有4个个体中，通过基因检测观察到TWIST基因突变。其中一些患者接受了短头畸形和上睑下垂的手术矫正，效果良好。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Neurosurgery Quarterly 医学-神经科学

CiteScore

0.08

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Neurosurgery Quarterly synthesizes the broad wealth of material on international developments in the diagnosis, management, and surgical treatment of neurological disorders. By encompassing viewpoints from worldwide sources, the journal provides information in greater depth than is usually found in the medical literature.