CASE REPORT OF A CHILD WITH ADAMS-OLIVER SYNDROME
Adams-Oliver syndrome (AOS) is a rare genetic condition that was first reported by Forrest Adams and Peter C. Oliver in 1945. AOS is inherited most frequently as dominant autosomal with pronounced phenotypic variation. Condition is primarily characterized by aplasia cutis congenita and terminal trans...
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The Society for Children with Metabolic Disorders
2021-03-01
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http://www.slovenskapediatrija.si/Portals/0/Clanki/2021/Slovpediatr-2021-1-06en.pdf
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doaj-3b52a9ec3a0947e4af20a6c157028d4d2021-04-05T14:51:29ZslvThe Society for Children with Metabolic DisordersSlovenska pediatrija1318-44232712-39602021-03-01281394210.38031/slovpediatr-2021-1-06en13184423CASE REPORT OF A CHILD WITH ADAMS-OLIVER SYNDROMEMateja Zidarič0Pij Bogomir Marko1 Oddelek za kožne in spolne bolezni, Univerzitetni klinični center Maribor, Maribor, Slovenija Oddelek za kožne in spolne bolezni, Univerzitetni klinični center Maribor, Maribor, Slovenija Adams-Oliver syndrome (AOS) is a rare genetic condition that was first reported by Forrest Adams and Peter C. Oliver in 1945. AOS is inherited most frequently as dominant autosomal with pronounced phenotypic variation. Condition is primarily characterized by aplasia cutis congenita and terminal transverse limb defects. In this clinical case we will describe a patient with characteristic skin deformation and terminal transverse limb defects associated with congenital heart disease. http://www.slovenskapediatrija.si/Portals/0/Clanki/2021/Slovpediatr-2021-1-06en.pdf adams-oliver syndromeaplasia cutis congenitacongenital heart diseaselimb reduction defect |
collection |
DOAJ |
language |
Slovenian |
format |
Article |
sources |
DOAJ |
author |
Mateja Zidarič Pij Bogomir Marko |
spellingShingle |
Mateja Zidarič Pij Bogomir Marko CASE REPORT OF A CHILD WITH ADAMS-OLIVER SYNDROME Slovenska pediatrija adams-oliver syndrome aplasia cutis congenita congenital heart disease limb reduction defect |
author_facet |
Mateja Zidarič Pij Bogomir Marko |
author_sort |
Mateja Zidarič |
title |
CASE REPORT OF A CHILD WITH ADAMS-OLIVER SYNDROME |
title_short |
CASE REPORT OF A CHILD WITH ADAMS-OLIVER SYNDROME |
title_full |
CASE REPORT OF A CHILD WITH ADAMS-OLIVER SYNDROME |
title_fullStr |
CASE REPORT OF A CHILD WITH ADAMS-OLIVER SYNDROME |
title_full_unstemmed |
CASE REPORT OF A CHILD WITH ADAMS-OLIVER SYNDROME |
title_sort |
case report of a child with adams-oliver syndrome |
publisher |
The Society for Children with Metabolic Disorders |
series |
Slovenska pediatrija |
issn |
1318-4423 2712-3960 |
publishDate |
2021-03-01 |
description |
Adams-Oliver syndrome (AOS) is a rare genetic condition that was first reported by Forrest Adams and Peter C. Oliver in 1945. AOS is inherited most frequently as dominant autosomal with pronounced phenotypic variation. Condition is primarily characterized by aplasia cutis congenita and terminal transverse limb defects. In this clinical case we will describe a patient with characteristic skin deformation and terminal transverse limb defects associated with congenital heart disease. |
topic |
adams-oliver syndrome aplasia cutis congenita congenital heart disease limb reduction defect |
url |
http://www.slovenskapediatrija.si/Portals/0/Clanki/2021/Slovpediatr-2021-1-06en.pdf
|
work_keys_str_mv |
AT matejazidaric casereportofachildwithadamsoliversyndrome AT pijbogomirmarko casereportofachildwithadamsoliversyndrome |
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1721540701169123328 |