Syndromic Hearing Loss in Children

Martin Lewis; Caroline D Robson; Felice D'Arco

doi:10.1016/j.nic.2023.05.007

Syndromic Hearing Loss in Children

Neuroimaging Clin N Am. 2023 Nov;33(4):563-580. doi: 10.1016/j.nic.2023.05.007. Epub 2023 Jul 4.

Authors

Martin Lewis¹, Caroline D Robson², Felice D'Arco³

Affiliations

¹ Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond St. London, London, WC1N3JH, UK.
² Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
³ Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond St. London, London, WC1N3JH, UK. Electronic address: felice.d'arco@gosh.nhs.uk.

PMID: 37741658
DOI: 10.1016/j.nic.2023.05.007

Abstract

Pattern recognition of specific temporal bone radiological phenotypes, in association with abnormalities in other organ systems, is critical in the diagnosis and management of syndromic causes of hearing loss. Several recent publications have demonstrated the presence of specific radiological appearances, allowing precise genetic and/or syndromic diagnosis, in the right clinical context. This review article aims to provide an extensive but practical guide to the radiologist dealing with syndromic causes of hearing loss.

Keywords: Branchiootorenal syndrome; CHARGE; Deafness; Pendred syndrome; Sensorineural hearing loss (SNHL); Syndromic hearing loss.

Publication types

Review

MeSH terms

Child
Hearing Loss* / diagnostic imaging
Hearing Loss* / etiology
Humans
Radiologists
Radiology*