Defining Features of Gabriele-de Vries Syndrome in Adults: A Case Report and Literature Review.

Am J Med Genet AMay 4, 2026 (epub)
Case ReportMedical GeneticsCardiologyOphthalmology

Ethan W Hollingsworth, Changrui Xiao

✦ AI-curated · Sources linked

Case in brief

A 63-year-old woman with Gabriele-de Vries syndrome presented with mild intellectual disability, bilateral cataracts, and early-onset coronary artery disease. Genetic testing revealed a c.1177_1179del variant in the YY1 gene. This case highlights the adult manifestations of GADEVS, which are not well characterized, and contributes to the understanding of the syndrome's phenotypic spectrum.

Diagnostic / clinical pearl

Clinicians should consider Gabriele-de Vries syndrome in adults presenting with neurodevelopmental disorders and associated features such as cataracts and coronary artery disease.

Why it matters

This case emphasizes the need for increased awareness of adult presentations of rare genetic syndromes, which can aid in diagnosis and management.

Source

PubMed · PMID 42083052

Published in Am J Med Genet A. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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