A Case of Thanatophoric Dysplasia Type 2: A Novel Mutation
Selvi Gülaşı1, Aytuğ Atıcı1, Yalçın Çelik1Mersin University Faculty Of Medicine, Department Of Pediatrics, Mersin, Turkey
Thanatophoric dysplasia (TD) is a lethal form of skeletal dysplasia with short-limb 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.
Selvi Gülaşı, Aytuğ Atıcı, Yalçın Çelik. A Case of Thanatophoric Dysplasia Type 2: A Novel Mutation. J Clin Res Pediatr Endocrinol. 2015; 7(1): 73-76 Manuscript Language: English