Intrauterine diagnosis of short-limbed dwarfism

Ten short-limbed fetuses caused by skeletal dysplasia were diagnosed prenatally from September 1984 through July 1988. The final diagnosis was thanatophoric dwarfism in 7 cases and osteogenesis imperfecta congenita in 3 cases. The diagnosis was based on sonographic findings in all cases and postnatal radiography was performed in 3 cases for further confirmation. Sonographic examinations revealed markedly shortened limbs and other associated abnormalities, including abnormal skull appearance, pear-shaped chest with protuberant abdomen, polyhydramnios and hydrops in fetuses with thanatophoric dwarfism. Fetuses with osteogenesis imperfecta congenita were characterized by fractures of the long bones. These findings were helpful in making the specific diagnosis of short-limbed dwarfism. According to our experience, sonographic examination is effective in the prenatal diagnosis of short-limbed dwarfism.