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,
2021-03-01T00:00:00Z.
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| 001 | doaj_3b52a9ec3a0947e4af20a6c157028d4d | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Mateja Zidarič |e author |
| 700 | 1 | 0 | |a Pij Bogomir Marko |e author |
| 245 | 0 | 0 | |a CASE REPORT OF A CHILD WITH ADAMS-OLIVER SYNDROME |
| 260 | |b The Society for Children with Metabolic Disorders, |c 2021-03-01T00:00:00Z. | ||
| 500 | |a 1318-4423 | ||
| 500 | |a 2712-3960 | ||
| 500 | |a 10.38031/slovpediatr-2021-1-06en | ||
| 520 | |a 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. | ||
| 546 | |a SL | ||
| 690 | |a adams-oliver syndrome | ||
| 690 | |a aplasia cutis congenita | ||
| 690 | |a congenital heart disease | ||
| 690 | |a limb reduction defect | ||
| 690 | |a Medicine | ||
| 690 | |a R | ||
| 690 | |a Pediatrics | ||
| 690 | |a RJ1-570 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Slovenska pediatrija, Vol 28, Iss 1, Pp 39-42 (2021) | |
| 787 | 0 | |n http://www.slovenskapediatrija.si/Portals/0/Clanki/2021/Slovpediatr-2021-1-06en.pdf | |
| 787 | 0 | |n https://doaj.org/toc/1318-4423 | |
| 787 | 0 | |n https://doaj.org/toc/2712-3960 | |
| 856 | 4 | 1 | |u https://doaj.org/article/3b52a9ec3a0947e4af20a6c157028d4d |z Connect to this object online. |