Skeletal Displasia

Abstract

Skeletal dysplasias, also known as osteochondrodysplasias, refer to a group of disorders described by abnormalities in the development, growth, and maintenance of both bone and cartilage. The prenatal diagnosis of skeletal dysplasia is very difficult and the lethal osteogenesis imperfect type II is the only one that can be consistently detected in utero. To highlight the importance of early diagnosis of congenital malformations by ultrasonography in primary health care. We present the sonographic images of a fetus affected by skeletal dysplasia at 18 weeks. After genetic counseling and given the poor prognosis with cases of skeletal lethal dysplasias, the patient decided to terminate the pregnancy. The diagnosis of skeletal dysplasia was confirmed by Pathology and Imaging.