An Unusual Presentation of Bilateral Split Hand-Foot Malformation (SHFM) in Family: A Tale of Two Generations.

Current Health Sciences Journal Pub Date : 2022-07-01 Epub Date: 2022-09-30 DOI:10.12865/CHSJ.48.03.16
Surya Vijay Singh, Gyanendra Puri, Anisha Elizabeth Gemmy
{"title":"An Unusual Presentation of Bilateral Split Hand-Foot Malformation (SHFM) in Family: A Tale of Two Generations.","authors":"Surya Vijay Singh,&nbsp;Gyanendra Puri,&nbsp;Anisha Elizabeth Gemmy","doi":"10.12865/CHSJ.48.03.16","DOIUrl":null,"url":null,"abstract":"<p><p>Split-hand/foot malformation (SHFM), also called as ectrodactyly. SHFM is a natural limb deformity, characterized by a deep standard split of the hand and/ or foot due to the absence of the central shafts. SHFM may happen as a separate existent or as part of a syndrome. Both forms are constantly established in association with chromosomal rearrangements resemblant to translocations or deletion. It is clinically and genetically diverse and shows substantially autosomal dominant heritage with variable expressivity and reduced penetrance. Cases presenting with SHFM features should be rigorously diagnosed, clinically examined, and submitted to pertinent cytogenetic and/ or molecular testing. We presented two months old male child and his paternal grandmother with SHFM.</p>","PeriodicalId":10938,"journal":{"name":"Current Health Sciences Journal","volume":"48 3","pages":"356-359"},"PeriodicalIF":0.0000,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/44/11/CHSJ-48-03-356.PMC9940929.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Health Sciences Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.12865/CHSJ.48.03.16","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/9/30 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

Abstract

Split-hand/foot malformation (SHFM), also called as ectrodactyly. SHFM is a natural limb deformity, characterized by a deep standard split of the hand and/ or foot due to the absence of the central shafts. SHFM may happen as a separate existent or as part of a syndrome. Both forms are constantly established in association with chromosomal rearrangements resemblant to translocations or deletion. It is clinically and genetically diverse and shows substantially autosomal dominant heritage with variable expressivity and reduced penetrance. Cases presenting with SHFM features should be rigorously diagnosed, clinically examined, and submitted to pertinent cytogenetic and/ or molecular testing. We presented two months old male child and his paternal grandmother with SHFM.

Abstract Image

Abstract Image

Abstract Image

家族性双侧手足裂畸形的罕见表现:两代人的故事。
手足裂畸形(SHFM),也称为指畸形。SHFM是一种自然的肢体畸形,其特征是由于缺乏中心轴而导致手和/或脚出现标准的深裂。SHFM可能作为一种单独存在或作为一种综合征的一部分发生。这两种形式都是与染色体重排相关的,类似于易位或缺失。它具有临床和遗传多样性,表现出明显的常染色体显性遗传,表现力可变,外显率降低。具有SHFM特征的病例应进行严格诊断、临床检查,并接受相关的细胞遗传学和/或分子检测。我们向两个月大的男孩和他的祖母介绍了SHFM。
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
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信