A Case of Thanatophoric Dysplasia Type 2 A Novel Mutation

Abstract

Thanatophoric dysplasia (TD) is a lethal form of skeletal dysplasia with shortlimb dwarfism. Two types distinguished with their radiological characteristics have been defined clinically. The femur is curved in type 1, while it is straight in type 2. TD is known to be due to a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. We report a male patient who showed clinical findings congruent with TD type 2 and a new mutation in the FGFR3 gene, a finding which has not been reported previously