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多指畸形

Supernumerary Digit

作者信息

Barnes Curtis J., Taqi Muhammad, De Cicco Franco L.

机构信息

Penn State College of Medicine

King Edward Medical University, Lahore, Pakistan

Abstract

A supernumerary digit, or polydactyly, is a congenital anomaly affecting the upper or lower extremities and is typically identified immediately after birth. Polydactyly is the most common congenital anomaly of the hand and foot, where affected individuals typically exhibit excessive fingers or toes, exceeding the usual count of 5. Parey, in the sixteenth century, documented individuals with more than the standard count of 5 fingers as having "superfluous fingers." Apart from Parey's historical description, artwork discovered in the southwestern "Four Corners" region of the United States portrays individuals with 6 digits on their hands and feet. This artwork is believed to have its origins in an early population that existed between AD 600 and 1280. The classification of polydactyly is contingent upon the location of the supernumerary digit. Preaxial polydactyly involves the radial or great toe side, postaxial polydactyly relates to the ulnar or fifth toe side, and central or mesoaxial polydactyly encompasses the second through fourth digits. Polydactyly is primarily an autosomal dominant anomaly and may manifest as an isolated condition or be associated with a syndrome. A comprehensive physical examination of newborns with polydactyly is imperative to evaluate the potential presence of associated syndromic disorders. This topic discusses the etiology and pathophysiology of polydactyly, as well as the significance of the interprofessional team in evaluating and treating affected patients.

摘要

多指(趾)畸形,即多指症,是一种影响上肢或下肢的先天性异常,通常在出生后立即被发现。多指症是手和足部最常见的先天性异常,受累个体通常表现出手指或脚趾过多,超过了正常的5个。16世纪的帕雷记录了手指超过标准数量5个的人有“多余的手指”。除了帕雷的历史描述外,在美国西南部“四角”地区发现的艺术品描绘了手脚有6个指头的人。据信这件艺术品起源于公元600年至1280年之间存在的早期人群。多指症的分类取决于多余手指的位置。轴前多指涉及桡侧或大脚趾一侧,轴后多指与尺侧或小脚趾一侧有关,中央或中轴多指包括第二至第四指。多指症主要是一种常染色体显性异常,可能表现为孤立病症,也可能与一种综合征相关。对患有多指症的新生儿进行全面的体格检查对于评估是否存在相关综合征性疾病至关重要。本主题讨论多指症的病因和病理生理学,以及跨专业团队在评估和治疗受影响患者方面的重要性。

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