A case of prenatally diagnosed thanatophoric dysplasia type I using 3D multislice view / 대한산부인과학회지

Lethal skeletal dysplasia can be suspected at relatively early pregnancy by ultrasonography, but the final diagnosis is difficult to make. Genetic, histopathologic and radiologic examinations are needed for the diagnosis. The most common lethal skeletal dysplasia is thanatophoric dysplasia (TD) and which can be subdivided into two types according to its clinical features. Advances in prenatal ultrasound techniques, especially 3D multislice scan technique enable to get adequate plans to diagnose TD. We report one case of thanatophoric dysplasia type I diagnosed by new 3D multislice view technique and confirmed by histopathologic, genetic, radiologic examination after termination at 20 weeks of gestation.