Abstract
Background:
Cherubism is a rare fibro-osseous disorder that almost exclusively affects the maxilla and mandible.
Case report:
We report on three affected males in three generations in family A, and ten affected patients in family B. The youngest affected relative in family A also had craniosynostosis. His father and grandfather had cherubism and clubbed fingers.
Results and discussion:
Cherubism was mapped to region 4p16.3. Because of the associated craniosynostosis, we excluded the FGFR3 gene as a candidate gene for cherubism. The inheritance pattern is autosomal dominant with variable expression. The penetrance is 100% in males and 50-70% in females. We found incomplete penetrance in males, which does not conform with all publications.
Publication types
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Case Reports
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English Abstract
MeSH terms
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Adolescent
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Adult
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Cherubism / diagnosis
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Cherubism / genetics*
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Child
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Child, Preschool
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Chromosome Aberrations
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Chromosomes, Human, Pair 4
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Combined Modality Therapy
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Craniosynostoses / diagnosis
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Craniosynostoses / genetics
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Craniosynostoses / therapy
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Female
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Follow-Up Studies
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Genes, Dominant
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Genetic Predisposition to Disease / genetics
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Humans
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Infant
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Male
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Orthodontics, Corrective
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Osteoarthropathy, Secondary Hypertrophic / diagnosis
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Osteoarthropathy, Secondary Hypertrophic / genetics
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Pedigree
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Protein-Tyrosine Kinases*
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Receptor, Fibroblast Growth Factor, Type 3
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Receptors, Fibroblast Growth Factor / genetics
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Tooth Abnormalities / diagnosis
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Tooth Abnormalities / genetics
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Tooth Abnormalities / therapy
Substances
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Receptors, Fibroblast Growth Factor
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FGFR3 protein, human
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Protein-Tyrosine Kinases
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Receptor, Fibroblast Growth Factor, Type 3