Overview of Skeletal Dysplasias

Tuğba Daşar, Esra Kılıç
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Abstract

Skeletal dysplasias are quite a heterogeneous group of disorders, characterized by bone and cartilage abnormalities. Although each of them is individually rare, collectively the birth incidence is approximately 1 in 5000 live births. Due to the clinical heterogeneity, patients with skeletal dysplasias can apply to different departments with many different complaints or even lethal in the perinatal period. The establishment of a precise diagnosis provide proper clinical management of the patient, and a confirmed molecular diagnosis can prevent the recurrence of the disorder in the next generations. However, determining a spesific diagnosis is not always easy, yet a multisystemic, comprehensive, and stepwise approach to the patients with skeletal dysplasias, at least allows clinicians to classify into a specific group. In this review, general approach to patients with skeletal dysplasias, and some of the clinical and radiographic clues helpful in the diagnostic process are briefly summarized.
骨骼发育不良概述
骨骼发育不良是一组以骨骼和软骨异常为特征的异质性疾病。虽然每种骨骼发育不良都很罕见,但总的发病率约为每 5000 个活产婴儿中就有 1 例。由于临床表现的异质性,骨骼发育不良患者可以向不同的科室提出不同的主诉,甚至在围产期死亡。准确诊断可为患者提供适当的临床治疗,而确诊的分子诊断则可防止该疾病在下一代中复发。然而,确定具体的诊断并非易事,但对骨骼发育不良患者采取多系统、全面和循序渐进的方法,至少能让临床医生将其归入一个特定的群体。在本综述中,我们将简要总结治疗骨骼发育不良患者的一般方法,以及有助于诊断过程的一些临床和影像学线索。
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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