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左脚先天性无甲畸形和短指畸形——库克综合征变异型:病例报告及文献复习

Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature.

作者信息

Chatterjee Daipayan

机构信息

Department of Orthopaedics, Vardhaman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.

出版信息

Indian J Hum Genet. 2014 Apr;20(2):206-8. doi: 10.4103/0971-6866.142914.

Abstract

Cooks syndrome is characterized by familial congenital anonychia or onychodystrophy, hypoplasia or absence of distal phalanges of the hands and feet with brachydactyly of the fifth finger and digitalization of the thumb (triphalangism). It is listed as a "rare disease" by the Office of Rare Diseases of the National Institutes of Health. Here, we report a case of congenital anonychia and brachydactyly of the left foot, which possibly is a variant of Cooks syndrome with a positive family history of similar deformity.

摘要

库克综合征的特征为家族性先天性无甲或甲营养不良、手足远端指骨发育不全或缺失,伴有第五指短指畸形及拇指三节指骨畸形(三指节拇指)。它被美国国立卫生研究院罕见病办公室列为“罕见病”。在此,我们报告1例左足足趾先天性无甲及短指畸形病例,其可能是库克综合征的一种变异型,且有类似畸形的家族史阳性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37d3/4228578/233b118c7d17/IJHG-20-206-g001.jpg

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