Kinning Esther, McDevitt Helen, Duncan Rod, Ahmed S Faisal
a Department of Clinical Genetics, Ferguson Smith Centre, Royal Hospital for Sick Children (Yorkhill), Dalnair Street, Glasgow, G3 8SJ, UK.
b Department of Neonatology, Royal Hospital for Sick Children (Yorkhill), Dalnair Street, Glasgow, G3 8SJ, UK.
Expert Rev Endocrinol Metab. 2011 Sep;6(5):731-743. doi: 10.1586/eem.11.61.
The skeletal dysplasias are a heterogeneous group of conditions of abnormal cartilage and bone development, resulting in a wide range of phenotypes of variable severity from perinatal lethality to mild short stature. Elucidation of the molecular mechanisms underlying these disorders is allowing us to understand more about the etiology of these conditions and classify them based upon the underlying gene defect. This article will discuss the development of bone and cartilage in relation to these conditions, present a clinical approach to their diagnosis and management, and consider new avenues of therapy.
骨骼发育不良是一组软骨和骨骼发育异常的异质性疾病，导致从围产期致死到轻度身材矮小等一系列严重程度各异的表型。对这些疾病潜在分子机制的阐明使我们能够更深入地了解其病因，并根据潜在的基因缺陷对它们进行分类。本文将讨论与这些疾病相关的骨骼和软骨发育情况，介绍其诊断和管理的临床方法，并探讨新的治疗途径。
