Prenatal Sonographic Diagnosis of Thanatophoric Dwarfism

Thanatophoric dwarfism is a short limb dwarf condition which usually results in death shortly after birth. It has been confused with achondroplastic and another congenital short limb dwarf condition. We now report a case of thanatophoric dwarfism in a 29-year-old woman, based on prenatal sonographic, radiological and autopsy findings with a review of literatures.