SynthesisOrphanet journal of rare diseases2012
Hearing impairment in Stickler syndrome: a systematic review.
Synthesis in Orphanet journal of rare diseases, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 2 of them syntheses that pooled it.
What it found
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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.
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Who cites it
45 citing papers in PubMed, 2 syntheses or guidelines pooled it, 97 citations in OpenAlex.
- A Systematic Review on the Role of the Stria Vascularis in Menière's Disease Pathogenesis.Journal of the Association for Research in Otolaryngology : JARO · 2025Pooled it
- Prevalence of various etiologies of hearing loss among cochlear implant recipients: Systematic review and meta-analysis.International journal of audiology · 2015Pooled it
- Review
- A simple questionnaire to prevent blindness: a cross-sectional study screening for Stickler syndrome in children.Rheumatology (Oxford, England) · 2026Article
- Diagnosis of rare diseases based on facial phenotype: a quantitative assessment using 2D and 3D photography in Stickler syndrome.Orphanet journal of rare diseases · 2026Article
- Agricultural copper pesticide exposure and DNA methylation in Central Valley of California residents with and without Parkinson's disease.Environmental research · 2025Article
- Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.Nature medicine · 2025Article
- Characteristics of Hearing Loss in Patients withIndian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2025Article
- Regulatory Role of Collagen XI in the Establishment of Mechanical Properties of Tendons and Ligaments in Mice Is Tissue Dependent.Journal of biomechanical engineering · 2025Article
- Novel pathogenic splicing mutation inFrontiers in genetics · 2025Article
- Structural and functional analysis of a homotrimeric collagen peptide.Frontiers in bioengineering and biotechnology · 2025Article
- Article
- Clinician Awareness of Stickler Syndromes Among Australian Allied Health Care Professionals.Journal of multidisciplinary healthcare · 2024Article
- Development of cochlear spiral ligament fibrocytes of the common marmoset, a nonhuman model animal.Scientific reports · 2023Article
- Long-term anatomical and functional outcomes of surgical treatment of retinal complications in children and adolescents with Stickler syndrome between 2004 and 2021.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2023Article
- Exposure to the persistent organic pollutant 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD, dioxin) disrupts development of the zebrafish inner ear.Aquatic toxicology (Amsterdam, Netherlands) · 2023Article
- Musculoskeletal and Gait Characteristics in Patients with Stickler Syndrome: A Cross-Sectional Study.Children (Basel, Switzerland) · 2022Article
- The Shape of the Jaw-Zebrafish Col11a1a Regulates Meckel's Cartilage Morphogenesis and Mineralization.Journal of developmental biology · 2022Article
- Hearing Loss in Stickler Syndrome: An Update.Genes · 2022Review
- Autosomal Recessive Stickler Syndrome.Genes · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundStickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance), and COL9A1 and COL9A2 (autosomal recessive inheritance). The auditory phenotype in Stickler syndrome is inconsistently reported. Therefore we performed a systematic review of the literature to give an up-to-date overview of hearing loss in Stickler syndrome, and correlated it with the genotype.
methodsEnglish-language literature was reviewed through searches of PubMed and Web of Science, in order to find relevant articles describing auditory features in Stickler patients, along with genotype. Prevalences of hearing loss are calculated and correlated with the different affected genes and type of mutation.
results313 patients (102 families) individually described in 46 articles were included. Hearing loss was found in 62.9%, mostly mild to moderate when reported. Hearing impairment was predominantly sensorineural (67.8%). Conductive (14.1%) and mixed (18.1%) hearing loss was primarily found in young patients or patients with a palatal defect. Overall, mutations in COL11A1 (82.5%) and COL11A2 (94.1%) seem to be more frequently associated with hearing impairment than mutations in COL2A1 (52.2%).
conclusionsHearing impairment in patients with Stickler syndrome is common. Sensorineural hearing loss predominates, but also conductive hearing loss, especially in children and patients with a palatal defect, may occur. The distinct disease-causing collagen genes are associated with a different prevalence of hearing impairment, but still large phenotypic variation exists. Regular auditory follow-up is strongly advised, particularly because many Stickler patients are visually impaired.
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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.