两例患有心脏缺陷和肢体短小的兄弟病例报告及文献综述

Reardon W, Hurst J, Farag T I, Hall C, Baraitser M

Mothercare Department of Peadiatric Genetics, Institute of Child Health, London.

J Med Genet. 1990 Dec;27(12):746-51. doi: 10.1136/jmg.27.12.746.

Two male Arab sibs are reported with congenital heart disease and skeletal malformations. Other published case reports sharing some features in common with these brothers are considered. However, clinical and radiological features in these boys are distinct enough to represent a new cardioskeletal syndrome.

据报道，有两名阿拉伯男性同胞患有先天性心脏病和骨骼畸形。文中还考虑了其他已发表的与这两名兄弟有一些共同特征的病例报告。然而，这两名男孩的临床和放射学特征足够独特，代表了一种新的心脏骨骼综合征。