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并指畸形

Syndactyly

作者信息

Hinkley Jacob R., Fallahi Amir-Kianoosh M.

机构信息

Ascension Genesys Hospital

Ascension Genesys, Michigan State University

PMID:32491636
Abstract

Syndactyly is a common congenital anomaly of the extremities characterized by the fusion of adjacent digits involving soft tissue and/or bone. This condition can occur in both the upper and lower extremities, creating the appearance of "webbed" or "super" digits, depending on the degree of fusion. Syndactyly is classified as simple or complex, with complex cases involving bony fusion, while simple cases involve only soft tissue. Complete syndactyly extends to the tips of the digits, including the nail folds, whereas incomplete syndactyly does not. Complicated syndactyly involves additional abnormalities, such as accessory phalanges or abnormal bones.  The most prevalent location is between the second and third toe in the feet and between the long and ring fingers in the hand. Syndactyly is most likely to present as an isolated phenomenon following autosomal dominant inheritance with incomplete penetrance but is also associated with multiple genetic syndromes such as Apert and Poland syndrome. Syndactyly is better tolerated in the feet than the hand, where independent digital motion is needed. Except for mild cases, surgical separation of the digits is often indicated to optimize hand function (See Syndactyly, a Common Congenital Anomaly of the Extremities).

摘要

并指畸形是一种常见的四肢先天性异常,其特征为相邻手指的软组织和/或骨骼融合。这种情况可发生于上肢和下肢,根据融合程度,会出现“蹼状”或“多指相连”的外观。并指畸形分为单纯型和复合型,复合型病例涉及骨融合,而单纯型病例仅涉及软组织。完全性并指延伸至手指末端,包括甲褶,而不完全性并指则不然。复杂性并指涉及额外的异常,如多指骨或异常骨骼。最常见的部位是足部第二和第三趾之间以及手部中指和无名指之间。并指畸形最有可能作为一种常染色体显性遗传且外显不全的孤立现象出现,但也与多种遗传综合征相关,如阿佩尔综合征和波兰综合征。足部的并指畸形比手部更易耐受,因为手部需要独立的手指活动。除轻度病例外,通常需要进行手指手术分离以优化手部功能(见《并指畸形,一种常见的四肢先天性异常》)。