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Article

A Comprehensive Craniofacial Study of 22q11.2 Deletion Syndrome.

Journal of dental research - 1 Nov 2017

Lewyllie A, Roosenboom J, Indencleef K, Claes P, Swillen A, Devriendt K, Carels C, Cadenas De Llano-Pérula M, Willems G, Hens G, Verdonck A

Abstract excerpt

The 22q11.2 deletion syndrome (22q11.2DS) is one of the most frequent microdeletion syndromes and presents with a highly variable phenotype. In most affected individuals, specific but subtle facial features can be seen. In this observational study, we aim to investigate the craniofacial and dental features of 20 children with a confirmed diagnosis of 22q11.2DS by analyzing 3-dimensional (3D) facial surface scans,...

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Identifiers

PMID: 28732176
DOI: 10.1177/0022034517720630

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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