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短指畸形、远端指骨融合、脊柱侧凸、身材高大及摇椅底足:一种新综合征。

Brachydactyly, distal symphalangism, scoliosis, tall stature, and club feet: a new syndrome.

作者信息

Sillence D O

出版信息

J Med Genet. 1978 Jun;15(3):208-11. doi: 10.1136/jmg.15.3.208.

Abstract

Five members of a kindred with brachydactyly and distal symphalangism, normal stature, pes cavus, and scoliosis were ascertained. The pedigree was consistent with autosomal dominant inheritance. The combination of clinical and radiological features is believed to be distinct from those previously reported in patients with brachydactyly/symphalangism.

摘要

确定了一个患有短指和远端指骨联合、身材正常、高弓足和脊柱侧凸的家族中的五名成员。该系谱符合常染色体显性遗传。临床和放射学特征的组合被认为与先前报道的短指/指骨联合患者的特征不同。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/83ec/1013678/f93dfd94dfcb/jmedgene00298-0045-a.jpg

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