Prenatal Diagnosis of Thanatophoric Dysplasia in Songklanagarind Hospital

Abstract

Skeletal dysplasias (osteochondrodysplasias) from a heterogeneous group of disorders are characterized by generalized abnormalities of skeletal growth and development. About half of skeletal dysplasias are lethal, usually because of a narrow thorax and hypoplastic lungs. Thanatophoric dysplasias are the most common lethal disorders. Most cases are detected on the basis of abnormal measurements of long bones. Prenatal detection of these disorders may influence obstetric and perinatal management of affected fetuses. We report a series of four cases of thanatophoric dysplasia detected within 5 years.