2. Academic Validation
  3. A case of thanatophoric dysplasia type 2: a novel mutation

A case of thanatophoric dysplasia type 2: a novel mutation

  • J Clin Res Pediatr Endocrinol. 2015 Mar;7(1):73-6. doi: 10.4274/jcrpe.1703.
Selvi Gülaşı 1,  Aytuğ Atıcı,  Yalçın Çelik
Affiliations

Affiliation

  • 1 Mersin University Faculty of Medicine, Department of Pediatrics, Mersin, Turkey. E-mail: selvigulasi@mynet.com.
PMID: 25800480 DOI: 10.4274/jcrpe.1703
Abstract

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.

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