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...
| Main Authors: | , |
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| Format: | Article |
| Language: | Slovenian |
| Published: |
The Society for Children with Metabolic Disorders
2021-03-01
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| Series: | Slovenska pediatrija |
| Subjects: | |
| Online Access: |
http://www.slovenskapediatrija.si/Portals/0/Clanki/2021/Slovpediatr-2021-1-06en.pdf
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| Summary: | 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. |
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| ISSN: | 1318-4423 2712-3960 |