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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Journal of the Nepal Medical Association
2020
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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. |
format | Online Article Text |
id | pubmed-7580312 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Journal of the Nepal Medical Association |
record_format | MEDLINE/PubMed |
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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