Orofacial Lymphedema in Phelan–McDermid Syndrome: A Case of Hemifacial Involvement and a Scoping Review

Phelan–McDermid syndrome (PMS) is a rare genetic disorder primarily caused by deletions or structural alterations of chromosome 22q13, often involving the SHANK3 gene. However, mutations in other genes, such as CELSR1, or deletions in the interstitial regions of 22q13 contribute to the phenotypic va...

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Bibliographic Details

Published in:	Applied Sciences
Main Authors:	Domenico De Falco, Dario Di Stasio, Dorina Lauritano, Alberta Lucchese, Massimo Petruzzi
Format:	Article
Language:	English
Published:	MDPI AG 2025-02-01
Subjects:	Phelan–McDermid syndrome lymphedema orofacial lymphedema
Online Access:	https://www.mdpi.com/2076-3417/15/4/2195