丝蛋白相关的发育不良/腹肌发育不良及相关疾病

Bone Dysplasias Pub Date : 2018-10-01 DOI:10.1093/med/9780190626655.003.0009

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

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引用次数: 0

摘要

本章讨论丝蛋白相关的发育不良/骨缺损及相关疾病，包括对1型耳腭指综合征、II型耳腭指综合征、Melnick-Needles成骨不良、额干骺端发育不良、回飞杆发育不良/关节发育不全I型、关节发育III型、Larsen综合征(常染色体显性)、跖椎局部关节闭锁综合征和Frank-ter Haar综合征的讨论。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。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Filamin-Associated Dysplasias/Dysostoses and Related Disorders

This chapter discusses filamin-associated dysplasias/dysostoses and related disorders and includes discussion on otopalatodigital syndrome type 1, otopalatodigital syndrome type II, Melnick-Needles osteodysplasty, frontometaphyseal dysplasia, boomerang dysplasia/atelosteogenesis type I, atelosteogenesis type III, Larsen syndrome (autosomal dominant), spondylocarpotarsal synostosis syndrome, and Frank-ter Haar syndrome. 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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