Thanatophoric dysplasia (TD) is one of the most common lethal skeletal dysplasias, which was first designated as
thanatophoric dwarfism and described in 1967. The authors report a case of a Caucasian girl with TD, born to a 31-year-old
woman without comorbidities. The newborn presented respiratory distress immediately after delivery, progressing
to death in less than 2 hours. An autopsy was carried out after postmortem tomographic examination. The autopsy
findings depicted extensive malformations of the skeletal system and the brain. The aim of this report is to discuss the
pathogenesis and correlate the morphologic features of TD that were disclosed at the tomography and the autopsy.
