ReviewJournal of pediatric genetics2018
Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.
Review in Journal of pediatric genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 2 of them syntheses that pooled 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.
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.
Who cites it
35 citing papers in PubMed, 2 syntheses or guidelines pooled it, 75 citations in OpenAlex.
- Outcomes of Cochlear Implantation in Patients with Pendred syndrome: A Systematic Review and Narrative Synthesis.The journal of international advanced otology · 2020Pooled it
- Task force Guideline of Brazilian Society of Otology ‒ hearing loss in children - Part I ‒ Evaluation.Brazilian journal of otorhinolaryngologyGuideline
- Genetic Diagnosis of Non-Syndromic Hearing Loss in South Indian Consanguineous Families Using Whole-Exome Sequencing.Medicina (Kaunas, Lithuania) · 2026Article
- Outcomes of Bonebridge Implantation in 10 Patients with Rare Genetic Syndromes and Difficult Anatomy.Journal of clinical medicine · 2026Article
- The preoperative temporal bone CT: a mnemonic for reducing surgical risk.Frontiers in radiology · 2026Review
- External quality assessment of genetic testing for hereditary hearing loss in Shanghai and other regions.Practical laboratory medicine · 2025Article
- Whole exome sequencing diagnosing syndromic and non-syndromic hearing loss with expansion of the phenotypic spectrum related to TMC1 variants.European journal of pediatrics · 2025Article
- Placode and neural crest origins of congenital deafness in mouse models of Waardenburg-Shah syndrome.iScience · 2025Article
- Developing Communication Skills and Social Adjustment in Deaf Students: The Effect of Role-Playing Activities.International journal of school health · 2024Article
- A NovelGenes · 2024Article
- Updates on Genetic Hearing Loss: From Diagnosis to Targeted Therapies.Journal of audiology & otology · 2024Article
- Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.Frontiers in genetics · 2024Article
- Recent Therapeutic Progress and Future Perspectives for the Treatment of Hearing Loss.Biomedicines · 2023Review
- Novel pathogenic WHRN variant causing hearing loss in a moroccan family.Molecular biology reports · 2023Article
- A Novel EYA1 Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical Application.Clinical and experimental otorhinolaryngology · 2023Article
- Hearing loss in neonates and infants.Clinical and experimental pediatrics · 2023Article
- Parent Awareness and Perceived Barriers Regarding Hearing Impairment among School Age Children in Taif Region of Saudi Arabia.Journal of pharmacy & bioallied sciences · 2023Article
- Various aspects of hearing loss in newborns: A narrative review.World journal of clinical pediatrics · 2023Review
- The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.Biomedicines · 2023Article
- Overcoming barriers: a review on innovations in drug delivery to the middle and inner ear.Frontiers in pharmacology · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.