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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Main Authors: Mateja Zidarič, Pij Bogomir Marko
Format: Article
Language:Slovenian
Published: The Society for Children with Metabolic Disorders 2021-03-01
Series:Slovenska pediatrija
Subjects:
Online Access: http://www.slovenskapediatrija.si/Portals/0/Clanki/2021/Slovpediatr-2021-1-06en.pdf
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spelling 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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