We aimed to review the contributions by Indian researchers to the subspecialty of skeletal dysplasias (SDs). Final diagnoses included 4 cases of osteogenesis imperfecta, 2 cases of achondroplasia, 1 case of IB achondrogenesis and 1 case of punctata chondrodysplasia. Skeletal radiography or fetal autopsy confirmed the bone anomalies and the type of SD. Five patients underwent termination, and 3 were delivered by cesarean section. Skeletal radiography, genetic testing, or fetal autopsy in cases of termination confirmed the diagnosis and type of SD. Conclusion: USE allowed the prenatal diagnosis of SD since the first trimester and, in most cases, identified the type of SD. Final diagnoses included 4 cases of osteogenesis imperfecta, 2 cases of achondroplasia,1 case of IB achondrogenesis and 1 case of punctata chondrodysplasia. We found mutations of the FGFR3 gene in achondroplasia, of the Delta 8/7 sterol isomerase in a case of chondrodysplasia punctata and deletion of the DTSDT gene in a case of IB achondrogenesis. Associated anomalies consisted of ventriculomegaly, hygroma, hydramnios, and thick nuchal fold. Anomalies consisted of the thickness of the femoral diaphysis, broad epiphysis, short and squat long bones, costal fractures, thinned coasts, anomalies of the profile and vertebrae, and a short and narrow thorax. Three (38%) cases of SD were discovered in the first trimester, and five in the second trimester. Results: Eight cases of SD were diagnosed (1.4/10,000 births) by ultrasonography (USE). Methods: Retrospective study including all cases of SD managed in a tertiary maternity center between 19. Objective: To evaluate prenatal ultrasound findings of Skeletal Dysplasia (SD) and examine the contribution of radiological, histological and genetic exams.
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