Craniosynostosis in cherubism

Cherubism is a rare autosomal dominant fibro-osseous disorder that affects almost exclusively maxilla and mandible. Extracranial skeletal involvement is rare. We report on three affected males in three generations. The younge st affected relative was examined at age 4 months. He also had craniosynost osis. His affected father and grandfather had cherubism and clubbing of the fingers. Cherubism was mapped to region 4p16, Because of the associated cr aniosynostosis, we excluded the FGFR3 gene as a candidate gene for cherubis m, (C) 2000 Wiley-Liss, Inc.