Rhizo-Mesomelic发育不良

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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Pseudoachondroplasia and Dominant Epiphyseal Dysplasia Punctate Calcification Group Spondylocostal Dysostoses Rhizo-Mesomelic Dysplasias Dense Bone Dysplasias with Meta-Diaphyseal Modeling Defects
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