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Slovenska pediatrija 2021; 28: 39-42

https://doi.org/10.38031/slovpediatr-2021-1-06en

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Case report

CASE REPORT OF A CHILD WITH ADAMS-OLIVER SYNDROME

Mateja Zidarič
Oddelek za kožne in spolne bolezni, Univerzitetni klinični center Maribor, Maribor, Slovenija

Pij Bogomir Marko
Oddelek za kožne in spolne bolezni, Univerzitetni klinični center Maribor, Maribor, Slovenija

Abstract

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.

Key words: Adams-Oliver syndrome, aplasia cutis congenita, congenital heart disease, limb reduction defect