Mund-, Kiefer- und Gesichtschirurgie : MKG · 2003
[Clinical and molecular genetic observations on families with cherubism over three generations].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Petschler M, Stiller M, Hoffmeister B, Witkowski R, Opitz C, Bill J S, Peters H
Аннотация
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.
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.
Предметные рубрики MeSH
AdolescentAdultCherubismChildChild, PreschoolChromosome AberrationsChromosomes, Human, Pair 4Combined Modality TherapyCraniosynostosesFemaleFollow-Up StudiesGenes, DominantGenetic Predisposition to DiseaseHumansInfantMaleOrthodontics, CorrectiveOsteoarthropathy, Secondary HypertrophicPedigreeProtein-Tyrosine KinasesReceptor, Fibroblast Growth Factor, Type 3Receptors, Fibroblast Growth FactorTooth Abnormalities