Rhizo-Mesomelic发育不良

Bone Dysplasias Pub Date : 2018-10-01 DOI:10.1093/med/9780190626655.003.0012

J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger

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引用次数: 0

摘要

本章讨论根瘤-中粒发育不良及相关疾病，包括对中粒发育不良(常染色体隐性)、Robinow综合征、软骨发育异常、中粒发育不良(Langer型)、中粒发育不良(Kantaputra型)、中粒发育不良(Werner型)、中粒发育不良(Reardon-Kozlowski型)、中粒发育不良(Nievergelt-Savarirayan型)和伴有肢端关节闭锁的中粒发育不良的讨论。每个讨论包括主要的放射学特征，主要的临床发现，遗传学，主要的鉴别诊断和参考书目。

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Rhizo-Mesomelic Dysplasias

This chapter discusses rhizo-mesomelic dysplasias and related disorders and includes discussion on omodysplasia (autosomal recessive), Robinow syndrome, dyschondrosteosis, mesomelic dysplasia (Langer type), mesomelic dysplasia (Kantaputra type), mesomelic dysplasia (Werner type), mesomelic dysplasia (Reardon-Kozlowski type), mesomelic dysplasia (Nievergelt-Savarirayan type), and mesomelic dysplasia with acral synostoses. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

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Bone Dysplasias

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