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Article

Capillary malformation-arteriovenous malformation syndrome associated with basilar artery aneurysm.

Pediatric dermatology - 1 Jul 2022

Guimaraes Maria Jose, Gomes Joana, Lopes Gabriela, Caldas Regina, Brito Celeste

Abstract excerpt

A 23-day-old boy with prenatal diagnosis of basilar artery aneurysm presented with multiple congenital red patches consistent with capillary malformations. Genetic testing confirmed the presence of a heterozygous pathogenic variant of the RASA1 gene, confirming the diagnosis of capillary malformation-arteriovenous malformation (CM-AVM) syndrome. This case illustrates an atypical presentation of the RASA1...

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PMID: 35503512
DOI: 10.1111/pde.15001

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