Overview of Skeletal Dysplasias

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.