Diagnosis of thanatophoric dwarfism in utero

Thanatophoric dwarfism is a severe form of neonatal shortlimbed skeletal dysplasia. Most infants are stillborn or die soon after birth. This disorder has well defined radiological features which distinguish it from the other forms of neonatal dwarfism. We report two cases where short limbs were detected on sonography and a diagnosis was made on antenatal radiographs and fetography.