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Article

Relationship between phenotypic features in Loeys-Dietz syndrome and the presence of intracranial aneurysms.

Journal of neurosurgery - 1 May 2023

Huguenard Anna L, Johnson Gabrielle W, Desai Rupen R, Osbun Joshua W, Dacey Ralph G, Braverman Alan C

Abstract excerpt

OBJECTIVE: Loeys-Dietz syndrome (LDS) is a rare autosomal dominant condition characterized by aneurysms of the aorta, aortic branches, and intracranial arteries; skeletal and cutaneous abnormalities; and craniofacial malformations. Previous authors have reported that higher craniofacial severity index (CFI) scores, which indicate more severe craniofacial abnormalities, correlate with the severity of aortic...

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PMID: 36308480
DOI: 10.3171/2022.9.JNS221373

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