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一种可能独特的常染色体隐性胸肢发育不良。

A probably distinct autosomal recessive thoraco-limb dysplasia.

作者信息

Rivera H, Perez-Salas J M, Nazara Z, Ramirez M L

机构信息

División de Genética, Unidad de Investigación Biomédica, Jalisco, Mexico.

出版信息

J Med Genet. 1988 Sep;25(9):619-22. doi: 10.1136/jmg.25.9.619.

Abstract

A Mexican mestizo family is reported in which two opposite sexed sibs, born to consanguineous parents, had a skeletal dysplasia. The salient features were a bell shaped thorax owing to short ribs, short limbed dwarfism, pelvic hypoplasia, dislocatable radial heads, elongated distal fibulae, and improvement with age. It is concluded that the present observation probably represents a distinct autosomal recessive thoraco-limb dysplasia identifiable at birth.

摘要

据报道,有一个墨西哥混血家庭,父母为近亲结婚,其两名异性同胞患有骨骼发育异常。主要特征包括因肋骨短导致的钟形胸廓、短肢侏儒症、骨盆发育不全、可脱位的桡骨头、远端腓骨延长以及随年龄增长有所改善。结论是,目前的观察结果可能代表一种在出生时即可识别的独特常染色体隐性胸肢发育异常。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e05/1051540/8e50591686a8/jmedgene00071-0043-a.jpg

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