Evidence map›Paper›PMID 40515822›Full record

ArticleNeuroradiology2025

The cochlear basal turn as a very preserved region in cochlear hypoplasias: radiological and embryological considerations from a cohort of 125 patients.

Antonio Messina, Emma Clement, Bernadette De Bakker, Robert Nash, Giovanni Morana, Shivaram Avula, Steve Connor, Felice D'Arco

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Article in Neuroradiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

8 authors.

Antonio MessinaPaediatric Radiology Department, Our Lady's Children's Hospital, Dublin, Ireland. antonio.messinadoc@gmail.com.
Emma ClementDepartment of Clinical Genetics, Great Ormond Street Hospital for Children, London, United Kingdom.
Bernadette De BakkerDepartment of Obstetrics and Gynecology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.
Robert NashDepartment of Paediatric Otolaryngology, Great Ormond Street Hospital, London, United Kingdom.
Giovanni MoranaNeuroradiology Unit, Department of Neurosciences, University of Turin, Torino, Italy.
Shivaram AvulaDepartment of Radiology, lder Hey Children's NHS Foundation Trust, East Prescot Road, Liverpool, L14 5 AB, United Kingdom.
Steve ConnorSchool of Biomedical Engineering and Imaging Sciences, King's College London , London, SE1 7EH, United Kingdom.
Felice D'ArcoDepartment of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1 N 3 JH, United Kingdom.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeA distinct form of cochlear hypoplasia, characterized by the preservation of the first half of the basal turn with hypoplastic and anteriorly displaced upper turns, was historically associated with branchio-oto-renal (BOR) syndrome, but can also occur in other genetic, syndromic and non-syndromic causes of hearing loss. This study aims to describe this phenotype with relative preservation of the basal turn, particularly its first half, in a significant proportion of cochlear hypoplasia cases due to different causes.

methodsWe retrospectively reviewed temporal bone imaging from 125 patients (250 ears) with cochlear malformations from a tertiary pediatric center, focusing on cases where the basal turn was partially or completely preserved. Temporal bone CT and internal auditory meatus MRI were assessed for cochlear morphology and associated anomalies and genetic, clinical and syndromic associations described.

resultsFifty-eight patients exhibited a preserved basal turn with different degrees of hypoplasia of the upper turns. These cases were grouped into five etiological clusters: branchio-oto-renal (BOR), CHARGE, Walker-Warburg (WWS) syndromes, other genetic cases and likely non-genetic cases (including syndromic conditions without a genetic cause identified such as oculo-auriculo-vertebral spectrum - OAVS). Genetic cases may show bilateral and symmetrical appearances, aberrant facial nerve courses were observed in 30 patients.

conclusionsPreservation of the first half of the basal turn suggests developmental arrest between 50 and 54 days of gestation, and is common across genetic and non-genetic conditions of cochlear hypoplasia. Frequent facial nerve anomalies may complicate cochlear implantation. Integrating imaging with embryological insights supports the need for refined, developmentally-based classification systems.

Indexed as

CochleaCochlear DiseasesTomography, X-Ray ComputedChildChild, PreschoolFemaleHumansInfantInfant, NewbornMalePhenotypeRetrospective StudiesTemporal Bone

Identifiers

PMID40515822
PMCPMC12390867

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