Autopsy Diagnosis of Thanatophoric Dysplasia

Thanatophoric Dysplasia is a rare form of neonatal lethal skeletal dysplasia, which affects 1 in 20,000 to 40,000 live births. It is characterized by underdevelopment of skeleton and short limb dwarfism. Infants with this condition have disproportionately short arms and legs with extra folds of skin. Other signs include a narrow chest, small ribs, underdeveloped lungs, enlarged head with large forehead, prominent, widely spaced eyes. A short neck, protuberant abdomen, depressed nasal bridge and hypoplastic mandible, may also be present. Based on the morphological characters, this condition is sub-divided as Type 1 and Type 2. Fetuses with this condition are either still-born or die shortly after birth. Prematurity is more likely, if not too severe, a neonate born with Thanatophoric Dysplasia, who receives ventilator support from birth has good chance of survival.