ReviewAmerican journal of medical genetics. Part A2012
Microtia: epidemiology and genetics.
Review in American journal of medical genetics. Part A, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 145 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
145 citing papers in PubMed, 2 syntheses or guidelines pooled it, 432 citations in OpenAlex.
- A systematic review of congenital external ear anomalies and their associated factors.Frontiers in pediatrics · 2025Pooled it
- Genotype-phenotype associations in microtia: a systematic review.Orphanet journal of rare diseases · 2024Pooled it
- Utility of Large Language Models for Congenital Microtia Reconstruction Education: Comparison of the Performance of Claude, GPT, and Gemini.Aesthetic plastic surgery · 2026Article
- Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early-Onset Monogenic Disorders.Prenatal diagnosis · 2026Article
- Impact of Muscular Asymmetry on Velopharyngeal Function in Children with Craniofacial Microsomia: A Pilot Study.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2026Article
- Time-Dependent Risk of Psychiatric Disorders in Pediatric and Adolescent Patients with Microtia: A Nationwide Population-Based Cohort Study.Journal of clinical medicine · 2026Article
- Prenatal genetic diagnostics and postnatal outcomes of fetal auricular dysplasia.Archives of gynecology and obstetrics · 2026Article
- Genetic variation near ROBO1 is associated with craniofacial microsomia and related phenotypes in the Finnish population.Human molecular genetics · 2026Article
- ChondrocytesFrontiers in cell and developmental biology · 2026Review
- Advances in prenatal ultrasound diagnosis of fetal tympanic ring anomalies.Frontiers in medicine · 2026Review
- Non-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia.Human genetics · 2025Article
- Novel 3D-printed aids for total ear reconstruction.3D printing in medicine · 2025Article
- Genetic Testing in Craniofacial Care: Development of Algorithms for Testing Patients with Orofacial Clefting, Branchial Arch Anomalies, and Craniosynostosis.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2025Article
- Article
- Streamlining asymmetry quantification in fetal mouse imaging: A semi-automated pipeline supported by expert guidance.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Article
- Blocking calcium-MYC regulatory axis inhibits early dedifferentiation of chondrocytes and contributes to cartilage regeneration.Stem cell research & therapy · 2025Article
- Microtia.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2025Article
- Integrated biomimetic bioprinting of perichondrium with cartilage for auricle reconstruction.Bioactive materials · 2025Article
- Human Auricles Are Not Symmetrical: A Comparative Study Using Landmark-Based and Surface-Based Software.The Journal of craniofacial surgery · 2025Article
- HOXB6 down-regulation induced by retinoic acid pathway repression leads to chondrocyte proliferation inhibition and apoptosis in microtia.Genes & diseases · 2025Article
85 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Microtia is a congenital anomaly of the ear that ranges in severity from mild structural abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as part of a spectrum of anomalies or a syndrome. Microtia is often associated with hearing loss and patients typically require treatment for hearing impairment and surgical ear reconstruction. The reported prevalence varies among regions, from 0.83 to 17.4 per 10,000 births, and the prevalence is considered to be higher in Hispanics, Asians, Native Americans, and Andeans. The etiology of microtia and the cause of this wide variability in prevalence are poorly understood. Strong evidence supports the role of environmental and genetic causes for microtia. Although some studies have identified candidate genetic variants for microtia, no causal genetic mutation has been confirmed. The application of novel strategies in developmental biology and genetics has facilitated elucidation of mechanisms controlling craniofacial development. In this paper we review current knowledge of the epidemiology and genetics of microtia, including potential candidate genes supported by evidence from human syndromes and animal models. We also discuss the possible etiopathogenesis in light of the hypotheses formulated to date: Neural crest cells disturbance, vascular disruption, and altitude.
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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.