足大指畸形的治疗经验:1例报告及文献复习

A. Kaur, Amandeep Kaur
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摘要

摘要大指畸形是一种罕见的先天性畸形,临床表现为软组织及骨元素肿大。它会引起各种健康问题,如疼痛、穿鞋困难、行动能力和步态发育障碍、审美问题和心理问题。大趾畸形的病因不明;然而,最近有报道称其与PIK3CA /AKT1基因有关。本文报道一例罕见的16岁女童先天性右脚第二、三趾大指畸形伴腿畸形。患者右脚第二脚趾和第三脚趾逐渐增大,并在同一条小腿膝盖以下出现变形的红色肿胀区。该畸形在出生时就已经存在,在一岁时,患者接受了大指畸形手术,但脚趾再次逐渐增大到以前的大小。她有多种健康问题。没有阳性家族史和/或其他先天性畸形。因此,我们建议,由于不同的表型表现,应选择适当的治疗,为个别患者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
An experience with Foot Macrodactyly: A case report and review of literature
Macrodactyly is a rare congenital malformation with clinical manifestations such as enlargement of soft tissue and osseous elements. It causes various health issues such as pain, difficulty in wearing shoes, impairment in ambulatory ability and gait development, aesthetic problem, and psychological issues. The aetiology of macrodactyly is ambiguous; however, its association with PIK3CA /AKT1 genes has been reported recently. In the present study, a rare congenital macrodactyly of second and third toe of right foot along with deformed leg in 16-year-old girl has been reported. A progressive increase in the size of the second and third toe of the right foot and deformed reddish swollen area on the same lower leg below knee was seen in the patient. The malformation was present at the time of birth and at the age of one year the patient was operated for macrodactyly, but again the toe progressively increased to the previous size. She was presented with multiple health problems. There was no positive family history and/or other congenital malformation. Thus, it was suggested that due to variable phenotypic manifestations, appropriate treatment should be chosen for the patient individually.
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