Sonographic Detection of Skeletal Dysplasia

Abstract

A case of skeletal dysplasia was sonographically evaluated in the fetus of a 21-year-old patient. The diagnosis of osteogenesis imperfecta type II was suggested during a routine morphological examination at 17 weeks’ gestation, based on visualization of rhizomelia, bowed long bones, and decreased thoracic cavity size. Sonographically, this dysplasia was well visualized and contributed to a final diagnosis, highlighting the diagnostic value of prenatal sonography. The use of routine sonographic examinations continues to prove crucial for early detection of fetal abnormalities such as skeletal dysplasias.