Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study

Thanatophoric dysplasia (TD) is one of the most common lethal skeletal dysplasias, which was first designated as thanatophoric dwarfism and described in 1967. The authors report a case of a Caucasian girl with TD, born to a 31-year-old woman without comorbidities. The newborn presented respiratory d...

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Detalles Bibliográficos
Autores principales: Mayoral, Éber Emanuel, Schultz, Regina, Rosemberg, Sérgio, Suzuki, Lisa, de Oliveira, Luiz Antonio Nunes, Kay, Fernando Uliana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: São Paulo, SP: Universidade de São Paulo, Hospital Universitário 2014
Materias:
Article / Autopsy Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448300/
https://www.ncbi.nlm.nih.gov/pubmed/28580325
http://dx.doi.org/10.4322/acr.2014.019
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author Mayoral, Éber Emanuel
Schultz, Regina
Rosemberg, Sérgio
Suzuki, Lisa
de Oliveira, Luiz Antonio Nunes
Kay, Fernando Uliana
author_facet Mayoral, Éber Emanuel
Schultz, Regina
Rosemberg, Sérgio
Suzuki, Lisa
de Oliveira, Luiz Antonio Nunes
Kay, Fernando Uliana
author_sort Mayoral, Éber Emanuel
collection PubMed
description Thanatophoric dysplasia (TD) is one of the most common lethal skeletal dysplasias, which was first designated as thanatophoric dwarfism and described in 1967. The authors report a case of a Caucasian girl with TD, born to a 31-year-old woman without comorbidities. The newborn presented respiratory distress immediately after delivery, progressing to death in less than 2 hours. An autopsy was carried out after postmortem tomographic examination. The autopsy findings depicted extensive malformations of the skeletal system and the brain. The aim of this report is to discuss the pathogenesis and correlate the morphologic features of TD that were disclosed at the tomography and the autopsy.
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spelling pubmed-54483002017-06-02 Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study Mayoral, Éber Emanuel Schultz, Regina Rosemberg, Sérgio Suzuki, Lisa de Oliveira, Luiz Antonio Nunes Kay, Fernando Uliana Autops Case Rep Article / Autopsy Case Report Thanatophoric dysplasia (TD) is one of the most common lethal skeletal dysplasias, which was first designated as thanatophoric dwarfism and described in 1967. The authors report a case of a Caucasian girl with TD, born to a 31-year-old woman without comorbidities. The newborn presented respiratory distress immediately after delivery, progressing to death in less than 2 hours. An autopsy was carried out after postmortem tomographic examination. The autopsy findings depicted extensive malformations of the skeletal system and the brain. The aim of this report is to discuss the pathogenesis and correlate the morphologic features of TD that were disclosed at the tomography and the autopsy. São Paulo, SP: Universidade de São Paulo, Hospital Universitário 2014-06-30 /pmc/articles/PMC5448300/ /pubmed/28580325 http://dx.doi.org/10.4322/acr.2014.019 Text en Autopsy and Case Reports. ISSN 2236-1960. Copyright © 2014. http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed of terms of the Creative Commons Attribution Non-Commercial License which permits unrestricted non-commercial use, distribution, and reproduction in any medium provided article is properly cited.
spellingShingle Article / Autopsy Case Report
Mayoral, Éber Emanuel
Schultz, Regina
Rosemberg, Sérgio
Suzuki, Lisa
de Oliveira, Luiz Antonio Nunes
Kay, Fernando Uliana
Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study
title Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study
title_full Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study
title_fullStr Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study
title_full_unstemmed Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study
title_short Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study
title_sort thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study
topic Article / Autopsy Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448300/
https://www.ncbi.nlm.nih.gov/pubmed/28580325
http://dx.doi.org/10.4322/acr.2014.019
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