Usefulness of Fetopathological Examination in the Diagnosis of Skeletal Dysplasias

Volume 5 • Issue 1 • 1000e103 J Clin Med Genomics, an open access journal ISSN: 2472-128X The skeletal dysplasias (SD) are the most common of the fetal genetic skeletal disorders. Classification of these conditions is based on clinical, radiological and pathological criteria [1]. The identification of an increasing number of genes involved in these disorders led to consider a molecular classification that groups phenotypically different conditions caused by mutations in the same gene [2]. Thus, the SD are composed of distinct groups of squeletal disorders covering a wide spectrum of gravity. However, this classification is still hybrid because the molecular defects have not yet been identified in all cases of SD [2]. Prenatal imaging can detect early fetal skeletal anomalies of varied severity and prognosis. It can accurately predicts lethality, based on the identification of pulmonary hypoplasia and severe limb shortening, but often raises a