ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 1 Year: 2024
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Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
A Case of Thanatophoric Dysplasia Type 2: A Novel Mutation [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2015; 7(1): 73-76 | DOI: 10.4274/jcrpe.1703

A Case of Thanatophoric Dysplasia Type 2: A Novel Mutation

Selvi Gülaşı1, Aytuğ Atıcı1, Yalçın Çelik1
Mersin 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.

Keywords: Thanatophoric dysplasia,FGFR3 gene,Skeletal dysplasia

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
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