Thanatophoric Dysplasia Type I: A Rare Case Report at Fetal Autopsy

Thanatophoric dysplasia type 1 is a lethal congenital anomaly with skeletal dysplasia. It is characterized by short limb dwarfism, enlarged head with frontal bossing, short neck, protuberant abdomen. It is detected in early gestational period by ultrasonography. The other associated anatomical abnor...

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Autores principales: Davanageri, Reshma S, Shokeen, Parul D, Bannur, Hema B, Patil, Kamal P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4196360/
https://www.ncbi.nlm.nih.gov/pubmed/25328339
http://dx.doi.org/10.4103/0974-2727.141513
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author Davanageri, Reshma S
Shokeen, Parul D
Bannur, Hema B
Patil, Kamal P
author_facet Davanageri, Reshma S
Shokeen, Parul D
Bannur, Hema B
Patil, Kamal P
author_sort Davanageri, Reshma S
collection PubMed
description Thanatophoric dysplasia type 1 is a lethal congenital anomaly with skeletal dysplasia. It is characterized by short limb dwarfism, enlarged head with frontal bossing, short neck, protuberant abdomen. It is detected in early gestational period by ultrasonography. The other associated anatomical abnormalities and characteristic laboratory findings aid in the early diagnosis and further work-up.
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spelling pubmed-41963602014-10-17 Thanatophoric Dysplasia Type I: A Rare Case Report at Fetal Autopsy Davanageri, Reshma S Shokeen, Parul D Bannur, Hema B Patil, Kamal P J Lab Physicians Case Report Thanatophoric dysplasia type 1 is a lethal congenital anomaly with skeletal dysplasia. It is characterized by short limb dwarfism, enlarged head with frontal bossing, short neck, protuberant abdomen. It is detected in early gestational period by ultrasonography. The other associated anatomical abnormalities and characteristic laboratory findings aid in the early diagnosis and further work-up. Medknow Publications & Media Pvt Ltd 2014 /pmc/articles/PMC4196360/ /pubmed/25328339 http://dx.doi.org/10.4103/0974-2727.141513 Text en Copyright: © Journal of Laboratory Physicians http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Davanageri, Reshma S
Shokeen, Parul D
Bannur, Hema B
Patil, Kamal P
Thanatophoric Dysplasia Type I: A Rare Case Report at Fetal Autopsy
title Thanatophoric Dysplasia Type I: A Rare Case Report at Fetal Autopsy
title_full Thanatophoric Dysplasia Type I: A Rare Case Report at Fetal Autopsy
title_fullStr Thanatophoric Dysplasia Type I: A Rare Case Report at Fetal Autopsy
title_full_unstemmed Thanatophoric Dysplasia Type I: A Rare Case Report at Fetal Autopsy
title_short Thanatophoric Dysplasia Type I: A Rare Case Report at Fetal Autopsy
title_sort thanatophoric dysplasia type i: a rare case report at fetal autopsy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4196360/
https://www.ncbi.nlm.nih.gov/pubmed/25328339
http://dx.doi.org/10.4103/0974-2727.141513
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