A Case of Thanatophoric Dysplasia Type 2: A Novel Mutation

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 fibrob...

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Detalles Bibliográficos
Autores principales: Gülaşı, Selvi, Atıcı, Aytuğ, Çelik, Yalçın
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439897/
https://www.ncbi.nlm.nih.gov/pubmed/25800480
http://dx.doi.org/10.4274/jcrpe.1703
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author Gülaşı, Selvi
Atıcı, Aytuğ
Çelik, Yalçın
author_facet Gülaşı, Selvi
Atıcı, Aytuğ
Çelik, Yalçın
author_sort Gülaşı, Selvi
collection PubMed
description 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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spelling pubmed-44398972016-02-18 A Case of Thanatophoric Dysplasia Type 2: A Novel Mutation Gülaşı, Selvi Atıcı, Aytuğ Çelik, Yalçın J Clin Res Pediatr Endocrinol Case Report 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. Galenos Publishing 2015-03 2015-03-05 /pmc/articles/PMC4439897/ /pubmed/25800480 http://dx.doi.org/10.4274/jcrpe.1703 Text en © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Gülaşı, Selvi
Atıcı, Aytuğ
Çelik, Yalçın
A Case of Thanatophoric Dysplasia Type 2: A Novel Mutation
title A Case of Thanatophoric Dysplasia Type 2: A Novel Mutation
title_full A Case of Thanatophoric Dysplasia Type 2: A Novel Mutation
title_fullStr A Case of Thanatophoric Dysplasia Type 2: A Novel Mutation
title_full_unstemmed A Case of Thanatophoric Dysplasia Type 2: A Novel Mutation
title_short A Case of Thanatophoric Dysplasia Type 2: A Novel Mutation
title_sort case of thanatophoric dysplasia type 2: a novel mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439897/
https://www.ncbi.nlm.nih.gov/pubmed/25800480
http://dx.doi.org/10.4274/jcrpe.1703
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