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骨骼发育不良。

The skeletal dysplasias.

机构信息

Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.

出版信息

Genet Med. 2010 Jun;12(6):327-41. doi: 10.1097/GIM.0b013e3181daae9b.

Abstract

The skeletal dysplasias (osteochondrodysplasias) are a heterogeneous group of more than 350 disorders frequently associated with orthopedic complications and varying degrees of dwarfism or short stature. These disorders are diagnosed based on radiographic, clinical, and molecular criteria. The molecular mechanisms have been elucidated in many of these disorders providing for improved clinical diagnosis and reproductive choices for affected individuals and their families. An increasing variety of medical and surgical treatment options can be offered to affected individuals to try to improve their quality of life and lifespan.

摘要

骨骼发育不良(骨软骨发育不良)是一组异质性疾病,超过 350 种,常伴有骨科并发症和不同程度的侏儒症或身材矮小。这些疾病的诊断基于影像学、临床和分子标准。许多这些疾病的分子机制已经阐明,为受影响的个体及其家庭提供了更好的临床诊断和生殖选择。可以为受影响的个体提供越来越多种类的医疗和手术治疗选择,以试图提高他们的生活质量和寿命。

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