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首页> 外文期刊>Open Journal of Urology >A Rare and Severe Case of Split-Hand/Foot Malformation in a Child in India
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A Rare and Severe Case of Split-Hand/Foot Malformation in a Child in India

机译：印度一名儿童的严重和严重的手脚畸形案例

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Ectrodactyly, termed Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod (hand/foot). Clinical presentation is with the absence of one or more median rays or digits creating cone shaped clefts of the hands and/or feet. The present case of severe bilateral split-hand and foot malformations was presented in an 8-year-old girl in India. This case of SHFM involves the complete absence of the central rays of the autopod in which each of the hands and each foot is divided into two parts by a coned shape cleft tapering proximally, resembling a “lobster claw”. SHFM is often associated with other limb anomalies including monodactyly, syndactyly and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Most cases are sporadic; however familial forms do exist with pre-dominantly autosomal dominant inheritance. This case is an example of the non-syndromic form of SHFM expressed with isolated involvement of the limbs, while the syndromic form is associated with anomalies as intellectual disability, ectodermal and craniofacial findings and hearing loss. Non-syndromic isolated ectrodactyly does not usually require surgical intervention. We recommended against surgical reconstruction, due to lack of evidence of functional disability.
机译：顺便说一句，被称为“手裂/脚裂畸形”（SHFM）是一种罕见的遗传病，其特征是脚足的中心元素（手/脚）缺损。临床表现是没有一个或多个中线或手指造成手和/或脚的锥形裂口。在印度的一个8岁女孩中出现了严重的双侧手足分开畸形的病例。 SHFM的这种情况涉及完全没有脚架的中央光线，在该中央脚架中，每只手和每只脚都被圆锥形裂缝分成两部分，向近端逐渐变细，类似于“龙虾爪”。 SHFM通常与其他肢体畸形相关，包括单指，趾和趾，掌骨和meta骨发育不全和/或发育不全。大多数情况是零星的。但是，家族形式的确存在，主要是常染色体显性遗传。该病例是SHFM的非综合症形式，表现为肢体受累，而该综合症形式则与智力障碍，外胚层和颅面部表情异常以及听力下降等异常情况相关。非症状性孤立性外阴通常不需要手术干预。由于缺乏功能障碍的证据，我们建议不要进行手术重建。

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