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Article

Craniofacial Dysmorphology Associated With Phelan-McDermid Syndrome Using Three-Dimensional Morphometrics.

Clinical genetics - 1 Jun 2026

Weisensee Katherine, Sarasua Sara M, Rennert Lior, Rogers Curtis, Phelan Katy, Powder Kara, Boccuto Luigi

Abstract excerpt

Phelan-McDermid syndrome (PMS) frequently presents with distinctive facial features, although a typical facial phenotype for this condition has not been well characterized. Facial dysmorphology assessments can be subjective, depending on the experience and training of the clinical geneticist conducting the patient evaluation. In this investigation, we sought to quantitatively assess craniofacial features in...

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Identifiers

PMID: 41706026
DOI: 10.1111/cge.70146
PMCID: PMC13167632

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