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

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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Main Authors: Reshma S Davanageri, Parul D Shokeen, Hema B Bannur, Kamal P Patil
Format: Article
Language:English
Published: Thieme Medical and Scientific Publishers Pvt. Ltd. 2014-07-01
Series:Journal of Laboratory Physicians
Subjects:
fetal autopsy
short limb
thanatophoric dysplasia
Online Access:http://www.thieme-connect.de/DOI/DOI?10.4103/0974-2727.141513
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spelling doaj-6e777435ef3c48588dd440e00fbf761c2020-11-25T02:42:12ZengThieme Medical and Scientific Publishers Pvt. Ltd.Journal of Laboratory Physicians0974-27270974-78262014-07-0160212112310.4103/0974-2727.141513Thanatophoric Dysplasia Type I: A Rare Case Report at Fetal AutopsyReshma S Davanageri0Parul D Shokeen1Hema B Bannur2Kamal P Patil3Department of Pathology, J.N. Medical College, Belgaum, Karnataka, IndiaDepartment of Pathology, J.N. Medical College, Belgaum, Karnataka, IndiaDepartment of Pathology, J.N. Medical College, Belgaum, Karnataka, IndiaDepartment of Obstetrics and Gynaecology, J.N. Medical College, Belgaum, Karnataka, IndiaThanatophoric 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.http://www.thieme-connect.de/DOI/DOI?10.4103/0974-2727.141513fetal autopsyshort limbthanatophoric dysplasia
collection DOAJ
language English
format Article
sources DOAJ
author Reshma S Davanageri
Parul D Shokeen
Hema B Bannur
Kamal P Patil
spellingShingle Reshma S Davanageri
Parul D Shokeen
Hema B Bannur
Kamal P Patil
Thanatophoric Dysplasia Type I: A Rare Case Report at Fetal Autopsy
Journal of Laboratory Physicians
fetal autopsy
short limb
thanatophoric dysplasia
author_facet Reshma S Davanageri
Parul D Shokeen
Hema B Bannur
Kamal P Patil
author_sort Reshma S Davanageri
title 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_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_sort thanatophoric dysplasia type i: a rare case report at fetal autopsy
publisher Thieme Medical and Scientific Publishers Pvt. Ltd.
series Journal of Laboratory Physicians
issn 0974-2727
0974-7826
publishDate 2014-07-01
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.
topic fetal autopsy
short limb
thanatophoric dysplasia
url http://www.thieme-connect.de/DOI/DOI?10.4103/0974-2727.141513
work_keys_str_mv AT reshmasdavanageri thanatophoricdysplasiatypeiararecasereportatfetalautopsy
AT paruldshokeen thanatophoricdysplasiatypeiararecasereportatfetalautopsy
AT hemabbannur thanatophoricdysplasiatypeiararecasereportatfetalautopsy
AT kamalppatil thanatophoricdysplasiatypeiararecasereportatfetalautopsy
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