肢端端粒性和肢端尖性发育不良/发育不良

Bone Dysplasias Pub Date : 2018-10-01 DOI:10.1093/med/9780190626655.003.0013

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

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引用次数: 0

摘要

本章讨论肢端端发育不良和肢端发育不良及相关疾病，包括肢端发育不良(Maroteaux型)、Grebe型发育不良、短趾畸形A1、短趾畸形B、短趾畸形C、短趾畸形D、短趾畸形E、短趾畸形(Christian型)、毛鼻指骨发育不良(1型)、毛鼻指骨发育不良(2型)、肢端股骨发育不良、Albright遗传性骨营养不良、肢端发育不良、肌物理发育不良、肢端发育不良，Myhre综合征和SOFT综合征。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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Acromesomelic and Acromelic Dysplasias/Dysostoses

This chapter discusses acromesomelic and acromelic dysplasias/dysostoses and related disorders and includes discussion on acromesomelic dysplasias (Maroteaux type), Grebe dysplasia, brachydactyly A1, brachydactyly B, brachydactyly C, brachydactyly D, brachydactyly E, brachydactyly (Christian type), tricho-rhino-phalangeal dysplasia (type 1), tricho-rhino-phalangeal dysplasia (type 2), acrocapitofemoral dysplasia, Albright hereditary osteodystrophy, acrodysostosis, geleophysic dysplasia, acromicric dysplasia, Myhre syndrome, and SOFT syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

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