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Thanatophoric Skeletal Dysplasia: A Case Report

Thanatophoric skeletal dysplasiais the most lethal, rare, sporadic birth defect due to de novo mutation in the fibroblast growth factor receptor-3. Clinically this is characterized by shortening of the limbs (micromelia), small conical thorax, flat vertebral bodies and macrocephaly at birth. We enco...

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Detalles Bibliográficos
Autores principales: Anjum, Firoz, Daha, Sunil Kumar, Shah, Ganesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Journal of the Nepal Medical Association 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7580312/
https://www.ncbi.nlm.nih.gov/pubmed/32347827
http://dx.doi.org/10.31729/jnma.4488
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author Anjum, Firoz
Daha, Sunil Kumar
Shah, Ganesh
author_facet Anjum, Firoz
Daha, Sunil Kumar
Shah, Ganesh
author_sort Anjum, Firoz
collection PubMed
description Thanatophoric skeletal dysplasiais the most lethal, rare, sporadic birth defect due to de novo mutation in the fibroblast growth factor receptor-3. Clinically this is characterized by shortening of the limbs (micromelia), small conical thorax, flat vertebral bodies and macrocephaly at birth. We encountered a similar case with ultrasonographic findings suggestive of Thanatophoric Skeletal Dysplasia which resulted in the death of the baby within an hour of birth. Almost all cases of this condition have been reported to have died interuterinally or a few days after birth.
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spelling pubmed-75803122020-11-30 Thanatophoric Skeletal Dysplasia: A Case Report Anjum, Firoz Daha, Sunil Kumar Shah, Ganesh JNMA J Nepal Med Assoc Case Report Thanatophoric skeletal dysplasiais the most lethal, rare, sporadic birth defect due to de novo mutation in the fibroblast growth factor receptor-3. Clinically this is characterized by shortening of the limbs (micromelia), small conical thorax, flat vertebral bodies and macrocephaly at birth. We encountered a similar case with ultrasonographic findings suggestive of Thanatophoric Skeletal Dysplasia which resulted in the death of the baby within an hour of birth. Almost all cases of this condition have been reported to have died interuterinally or a few days after birth. Journal of the Nepal Medical Association 2020-03 2020-03-31 /pmc/articles/PMC7580312/ /pubmed/32347827 http://dx.doi.org/10.31729/jnma.4488 Text en © The Author(s) 2018. http://creativecommons.org/licenses/by/4.0/ This is an Open-Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Anjum, Firoz
Daha, Sunil Kumar
Shah, Ganesh
Thanatophoric Skeletal Dysplasia: A Case Report
title Thanatophoric Skeletal Dysplasia: A Case Report
title_full Thanatophoric Skeletal Dysplasia: A Case Report
title_fullStr Thanatophoric Skeletal Dysplasia: A Case Report
title_full_unstemmed Thanatophoric Skeletal Dysplasia: A Case Report
title_short Thanatophoric Skeletal Dysplasia: A Case Report
title_sort thanatophoric skeletal dysplasia: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7580312/
https://www.ncbi.nlm.nih.gov/pubmed/32347827
http://dx.doi.org/10.31729/jnma.4488
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