ArticleAmerican journal of medical genetics. Part A2012
The face signature of fibrodysplasia ossificans progressiva.
Article 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 26 papers.
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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.
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Who cites it
26 citing papers in PubMed, 50 citations in OpenAlex.
- Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome.Journal of medical genetics · 2026Article
- Fostering equity in precision health through diverse 3D facial data.Frontiers in medical technology · 2026Article
- Mutations in the bone morphogenetic protein signaling pathway sensitize zebrafish and humans to ethanol-induced jaw malformations.Disease models & mechanisms · 2025Article
- A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder.IEEE access : practical innovations, open solutions · 2025Article
- Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives.Bone reports · 2024Review
- Refining nosology by modelling variation among facial phenotypes: the RASopathies.Journal of medical genetics · 2022Article
- Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism.Scientific reports · 2021Article
- Increased facial asymmetry in focal epilepsies associated with unilateral lesions.Brain communications · 2021Article
- The case for open science: rare diseases.JAMIA open · 2020Review
- Pitfalls and Promise of 3-dimensional Image Comparison for Craniofacial Surgical Assessment.Plastic and reconstructive surgery. Global open · 2020Article
- Sources of variation in the 3dMDface and Vectra H1 3D facial imaging systems.Scientific reports · 2020Article
- Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.Frontiers in genetics · 2019Article
- An automatic approach for classification and categorisation of lip morphological traits.PloS one · 2019Article
- Combined Face-Brain Morphology and Associated Neurocognitive Correlates in Fetal Alcohol Spectrum Disorders.Alcoholism, clinical and experimental research · 2018Article
- Facial Curvature Detects and Explicates Ethnic Differences in Effects of Prenatal Alcohol Exposure.Alcoholism, clinical and experimental research · 2017Article
- Myositis ossificans in children: a review.European journal of orthopaedic surgery & traumatology : orthopedie traumatologie · 2017Article
- 3-Dimensional Facial Analysis-Facing Precision Public Health.Frontiers in public health · 2017Article
- Exploring the Underlying Genetics of Craniofacial Morphology through Various Sources of Knowledge.BioMed research international · 2016Review
- The type I BMP receptor ACVR1/ALK2 is required for chondrogenesis during development.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2015Article
- Eigen-disfigurement model for simulating plausible facial disfigurement after reconstructive surgery.BMC medical imaging · 2015Article
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6 authors at 5 institutions in 5 countries.
Funding
Abstract
Fibrodysplasia ossificans progressiva (FOP) causes extensive heterotopic bone formation due to heterozygous mutations in the glycine-serine activation domain of ACVR1 (ALK2), a bone morphogenetic protein type I receptor. Anecdotal observations of facial similarity have been made by clinicians and parents, but no objective quantitative analysis of the faces of FOP patients has ever been undertaken. We delineated the common facial characteristics of 55 individuals with molecularly confirmed FOP by analyzing their face signature (face shape difference normalized against age and sex matched controls) and associated face signature graphs (with face signatures as vertices and adjacency corresponding to greatest similarity). Our analysis identified 10 affected individuals whose face signature is more homogeneous than others with FOP. This distinct subgroup showed the previously identified reduced mandible as well as newly identified features: underdevelopment of the upper orbit/supra-orbital ridge; infra-orbital prominence; and, low-set ears. These findings strongly suggest that the canonical FOP mutation variably affects the postnatal morphogenesis of the normotopic cranial skeleton in the upper midface and mandible and may have important diagnostic and functional implications.
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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.