[Clinical and molecular genetic observations on families with cherubism over three generations].
BACKGROUND
Cherubism is a rare fibro-osseous disorder that almost exclusively affects the maxilla and mandible.


METHODS
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.


CONCLUSIONS
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.
Petschler
M
M
Abteilung für Zahnärztliche Chirurgie und Röntgenologie, Klinik für Kieferchirugie und plastische Gesichtschirurgie, Universitätsklinikum Benjamin Franklin, Berlin. michael.petschler@ukbf.fu-berlin.de
Stiller
M
M
Hoffmeister
B
B
Witkowski
R
R
Opitz
C
C
Bill
J S
JS
Peters
H
H
D000293:Adolescent; D000328:Adult; D002636:Cherubism / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002894:Chromosomes, Human, Pair 4; D003131:Combined Modality Therapy; D003398:Craniosynostoses / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009971:Orthodontics, Corrective; D010005:Osteoarthropathy, Secondary Hypertrophic / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D014071:Tooth Abnormalities / Q000175:diagnosis / Q000235:genetics / Q000628:therapy
D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3