Prenatal ultrasonographic findings of a case of multiple pterygium syndrome / 대한산부인과학회지

ABSTRACT

Multiple pterygium syndrome is an inherited condition characterized by joint pterygium and flexion contracture, in association with other abnormalities such as fetal hydrops, cystic hygroma, club foot, intrauterine growth retardation and hypoplastic lungs. It is usually inherited as an autosomal recessive trait, although X-linked recessive inheritance is also reported. The pathogenesis has been suggested to be early onset fetal akinesia, fragile collagen or generalized edema. Prenatal diagnosis of multiple pterygium syndrome is possible by demonstrating severe limb contractures, absence of fetal limb motion and progressive fetal edema in mid-pregnancy, but in case with a family history of this syndrome, ultrasound studies should be started in the first trimester. We have experienced a multiple pterygium syndrome with a history of recurrent fetal hydrops, so report on the prenatal sonographic findings of this case with brief review of literatures.