先天性脊椎骨骺发育不良及相关的2型/ 11型胶原蛋白紊乱

Bone Dysplasias Pub Date : 2018-10-01 DOI:10.1093/MED/9780190626655.003.0004

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

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引用次数: 0

摘要

本章进一步讨论了骨发育不良，并探讨了软骨发育不全II型(软骨发育不全)、平椎体发育不良(Torrance型)、先天性脊柱骨骺发育不良、脊柱外延干骺发育不良(Strudwick型)、Kniest发育不良、脊柱外延骨骺发育不良(Stanescu型)、脊柱外周发育不良、短跖骨型脊柱骨骺发育不良、Stickler发育不良、纤维软骨发育不良和耳-脊椎巨骺发育不良。每次讨论包括主要临床表现，主要放射学特征，遗传学，主要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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Spondyloepiphyseal Dysplasia Congenita and Related Type 2/Type 11 Collagen Disorders

This chapter further discusses bone dysplasias, and explores achondrogenesis II (hypochondrogenesis), platyspondylic dysplasia (Torrance type), spondyloepiphyseal dysplasia congenita, spondylo-epi-metaphyseal dysplasia (Strudwick type), Kniest dysplasia, spondyloepiphyseal dysplasia (Stanescu type), spondyloperipheral dysplasia, spondyloepiphyseal dysplasia with short metatarsals, Stickler dysplasia, fibrochondrogenesis, and oto-spondylo-megaepiphyseal dysplasia. Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.

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Bone Dysplasias

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