家族性双侧手足裂畸形的罕见表现:两代人的故事。

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
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摘要

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。

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

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.

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