ArticleEuropean journal of human genetics : EJHG2013
Craniofacial characteristics of fragile X syndrome in mouse and man.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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
20 citing papers in PubMed, 50 citations in OpenAlex.
- Pathogenic O-GlcNAc dyshomeostasis is associated with cortical malformations and hyperactivity.eLife · 2026Article
- Phenotypic variability of Fragile-X syndrome in Asian population: A systematic review.Intractable & rare diseases research · 2026Review
- From Discovery to Innovative Translational Approaches in 80 Years of Fragile X Syndrome Research.Biomedicines · 2025Review
- Phenotypic variability to medication management: an update on fragile X syndrome.Human genomics · 2023Review
- Article
- Article
- Mouse models of fragile X-related disorders.Disease models & mechanisms · 2023Review
- The Role of RNA-Binding Proteins in Vertebrate Neural Crest and Craniofacial Development.Journal of developmental biology · 2021Review
- Zebrafish Chromosome 14 Gene Differential Expression in theFrontiers in genetics · 2021Article
- Auditory Brain Stem Responses in the C57BL/6J Fragile X Syndrome-Knockout Mouse Model.Frontiers in integrative neuroscience · 2021Article
- Article
- Human Models Are Needed for Studying Human Neurodevelopmental Disorders.American journal of human genetics · 2018Review
- Combined Face-Brain Morphology and Associated Neurocognitive Correlates in Fetal Alcohol Spectrum Disorders.Alcoholism, clinical and experimental research · 2018Article
- Fragile X syndrome: a review of clinical and molecular diagnoses.Italian journal of pediatrics · 2017Review
- Augmented noncanonical BMP type II receptor signaling mediates the synaptic abnormality of fragile X syndrome.Science signaling · 2016Article
- Social/economic costs and health-related quality of life in patients with fragile X syndrome in Europe.The European journal of health economics : HEPAC : health economics in prevention and care · 2016Article
- Treatment of the psychiatric problems associated with fragile X syndrome.Current opinion in psychiatry · 2015Review
- Experimental Fusion of Contrast Enhanced High-Field Magnetic Resonance Imaging and High-Resolution Micro-Computed Tomography in Imaging the Mouse Inner Ear.The open neuroimaging journal · 2015Article
- Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.Molecular genetics & genomic medicine · 2014Article
- Meeting at the crossroads: common mechanisms in Fragile X and Down syndrome.Trends in neurosciences · 2013Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
For a disorder as common as fragile X syndrome, the most common hereditary form of cognitive impairment, the facial features are relatively ill defined. An elongated face and prominent ears are the most commonly accepted dysmorphic hallmarks. We analysed 3D facial photographs of 51 males and 15 females with full FMR1 mutations and 9 females with a premutation using dense-surface modelling techniques and a new technique that forms a directed graph with normalized face shapes as nodes and edges linking those with closest dysmorphism. In addition to reconfirming known features, we confirmed the occurrence of some at an earlier age than previously recorded. We also identified as yet unrecorded facial characteristics such as reduced facial depth, hypoplasticity of the nasal bone-cartilage interface and narrow mid-facial width exaggerating ear prominence. As no consistent craniofacial abnormalities had been reported in animal models, we analysed micro-CT images of the fragile X mouse model. Results indicated altered dimensions in the mandible and both outer and inner skull, with the latter potentially reflecting differences in neuroanatomy. We extrapolated the mouse results to face shape differences of the human fragile X face.
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.