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Article

Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome.

American journal of medical genetics. Part A - 1 Nov 2016

Loos Elke, Verhaert Nicolas, Willaert Annelore, Devriendt Koenraad, Swillen Ann, Hermans Robert, Op de Beeck Katya, Hens Greet

Abstract excerpt

The 22q11 deletion syndrome (22q11DS), the most frequent microdeletion syndrome in humans, presents with a large variety of abnormalities. A common abnormality is hearing impairment. The exact pathophysiological explanation of the observed hearing loss remains largely unknown. The aim of this study was to analyze the middle and inner ear malformations as seen on computer tomographic imaging in patients with...

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Identifiers

PMID: 27604838
DOI: 10.1002/ajmg.a.37872

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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