A rare forensic autopsy case report of Thanatophoric dysplasia type I

Thanatophoric dysplasia (TD) is a rare disease but commonly found in lethal neonatal skeletal dysplasia, which is caused by pR248C mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. The incidence is found 1 in 15,000-40,000 births. There are two types including type I and type II by primarily determining skull and femur shape. TD type I found bowed femurs but not commonly found cloverleaf-shaped skull while TD type II found cloverleaf skull but femur was straight. Present report reveals a case of forensic autopsy of male death fetus in utero, which was diagnosed to be TD type I where large head with prominent forehead bones (frontal bossing), depressed nasal bridge, mesomelia of legs, platyspondyly, curved of both humeri and femurs, and lung hypoplasia. Femoral epiphyseal growth plate retardation and disorganization was found microscopically.