Evidence map›Paper›PMID 41323166›Full record

ArticleRadiology case reports2026

Chudley-McCullough syndrome: A report of a rare syndromic sensorineural hearing loss.

Chaimae Ouqlani, Nourrelhouda Bahlouli, Hafsa Riache, Meryem Fikri, Najwa Ech-Cherif Kettani, Mohamed Jiddane, Firdaous Touarsa

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PubMed Full text at PMC Publisher
In one paragraph

Article in Radiology case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Chaimae OuqlaniNeuroradiology Department, Specialty Hospital of Rabat, Mohammed V University, Rabat, Morocco.
Nourrelhouda BahlouliNeuroradiology Department, Specialty Hospital of Rabat, Mohammed V University, Rabat, Morocco.
Hafsa RiacheNeuroradiology Department, Specialty Hospital of Rabat, Mohammed V University, Rabat, Morocco.
Meryem FikriNeuroradiology Department, Specialty Hospital of Rabat, Mohammed V University, Rabat, Morocco.
Najwa Ech-Cherif KettaniNeuroradiology Department, Specialty Hospital of Rabat, Mohammed V University, Rabat, Morocco.
Mohamed JiddaneNeuroradiology Department, Specialty Hospital of Rabat, Mohammed V University, Rabat, Morocco.
Firdaous TouarsaNeuroradiology Department, Specialty Hospital of Rabat, Mohammed V University, Rabat, Morocco.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Chudley-McCullough syndrome (CMS) is a rare autosomal recessive disorder. It is characterized by the association of early-onset sensorineural hearing loss and typical brain malformations, in contrast with preserved or only mildly affected psychomotor development. The first cases were reported in 1997 by Chudley et al. in a brother and sister born to consanguineous parents. It was not until 2012 that Doherty et al. identified mutations in the GPSM2 gene (G-protein signaling modulator 2) as the cause of CMS. We present the case of CMS in a 3-year-old girl with bilateral sensorineural deafness and characteristic brain malformations on MRI (callosal splenium agenesis, colpocephaly, interhemispheric cyst, cerebellar dysplasia, midline polymicrogyria and gray matter heterotopia).

Indexed as

Chudley-McCullough syndromeCorpus callosum agenesisInterhemispheric cystMidline polymicrogyriaMRISensorineural hearing loss

Identifiers

PMID41323166
PMCPMC12661401

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.