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肢端中胚层发育异常

Acromesomelic dysplasia.

作者信息

Langer L O, Garrett R T

出版信息

Radiology. 1980 Nov;137(2):349-55. doi: 10.1148/radiology.137.2.7433666.

Abstract

The radiographic features of acromesomelic dysplasia are presented, along with a summary of pertinent clinical features. They are thought to allow a diagnosis in affected individuals over six months of age. Since the condition has an autosomal recessive mode of genetic transmission and results in extremely short stature, the establishment of the diagnosis has practical importance.

摘要

本文介绍了肢端中胚层发育不良的影像学特征,并总结了相关的临床特征。这些特征被认为有助于对6个月以上的患病个体进行诊断。由于该病具有常染色体隐性遗传模式,并导致身材极度矮小,因此确诊具有实际意义。

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