Suppr超能文献

远节趾骨拇外翻和 HOXA13 的一种新突变。手足生殖器综合征谱的一部分。

Hallux valgus interphalangeus and a novel mutation in HOXA13. Part of the broadening spectrum of Hand-Foot-Genital syndrome.

机构信息

Specialist Registrars in Orthopaedic Surgery, Royal National Orthopaedic Hospital, Brockley Hill, Stanmore, Middlesex, HA7 4LP, United Kingdom.

出版信息

Foot Ankle Surg. 2011 Jun;17(2):e28-30. doi: 10.1016/j.fas.2010.12.003. Epub 2011 Jan 19.

Abstract

When evaluating foot and hand malformations in children, the orthopaedic surgeon must always consider the possibility of a more serious underlying syndrome with other accompanying abnormalities of organogenesis. We report the case of a 13-year-old female with Hand-Foot-Genital syndrome presenting to our foot and ankle clinic with tarsal coalition and hallux valgus interphalangeus - an unusual variation on the previously reported hallux varus associated with the syndrome. She was subsequently found to have a novel mutation in the HOXA13 gene. To our knowledge, this is the first report of Hand-Foot-Genital syndrome in the orthopaedic literature.

摘要

在评估儿童手足畸形时,矫形外科医生必须始终考虑到更严重的潜在综合征的可能性,以及其他伴随的器官发生异常。我们报告了一例 Hand-Foot-Genital 综合征的 13 岁女性患者,她因跗骨联合和踇趾外翻间关节来到我们的足踝诊所就诊 - 这是以前报道的与该综合征相关的踇趾内翻的一种不常见变异。随后发现她在 HOXA13 基因中存在新的突变。据我们所知,这是 Hand-Foot-Genital 综合征在矫形外科文献中的首次报告。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验