Prenatal diagnosis of pseudothalidomide syndrome in consecutive pregnancies of a consanguineous couple

Pseudothalidomide syndrome is a rare autosomal recessive condition characterized by tetraphocomelia, craniofacial abnormalities and postnatal growth restriction. We report the prenatal sonographic findings of pseudothalidomide syndrome in three consecutive pregnancies of a consanguineous couple. In the last pregnancy, the correct diagnosis was made sonographically at 11 weeks of pregnancy. The combination of transabdominal and transvaginal ultrasound examinations revealed a large cystic hygroma extending over the lower back. The lower extremities were markedly shortened with no identifiable bones below the level of the femora. The humeri on both sides were shortened; ulnae were small with no identifiable radii. The pregnancy was terminated by dilatation and curettage and diagnosis confirmed at 12 weeks pregnancy. In conclusion, fetuses with pseudothalidomide syndrome may exhibit characteristic findings in the first trimester of pregnancy which can be detected using ultrasound.