弯肢发育异常：常染色体显性遗传的证据。
Campomelic dysplasia: evidence of autosomal dominant inheritance.
作者信息
Lynch S A, Gaunt M L, Minford A M
机构信息
Department of Genetics, Leeds General Infirmary, UK.
出版信息
J Med Genet. 1993 Aug;30(8):683-6. doi: 10.1136/jmg.30.8.683.
Abstract
We present a mother and daughter with clinical and radiological findings consistent with the diagnosis of campomelic dysplasia. Milder tibial bowing and significant shortening of the phalangeal bones of both hands and feet may distinguish this from the classical autosomal recessive form of the disease.
摘要
我们报告了一对母女，她们的临床和影像学表现符合弯肢侏儒症的诊断。较轻的胫骨弯曲以及双手和双脚指骨的明显缩短可能将其与该病的经典常染色体隐性形式区分开来。
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