Craniosynostosis in cherubism |
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| Authors: | Michael Stiller Maik Urban Werner Golder Valdenize Tiziani Ernst Reichenberger Jörg Frege Charlotte Opitz Hartmut Peters |
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| Affiliation: | 1. Department of Dental, Oral and Maxillofacial Surgery, Section for Dental Surgery and Radiology, Free University of Berlin, Germany;2. Institute of Medical Genetics, Charité Medical School, Humboldt University of Berlin, Germany;3. Department of Radiology and Nuclear Medicine, Free University of Berlin, Germany;4. Department of Cell Biology, Harvard Medical School and Harvard‐Forsyth Department of Oral Biology, Harvard School of Dental Medicine, Boston, Massachusetts;5. Institute of Pathology, Benjamin Franklin Hospital, Free University of Berlin, Germany;6. Department of Orofacial Orthopedics and Orthodontics, Center of Dentistry, Humboldt University of Berlin, Germany |
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| Abstract: | 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 youngest affected relative was examined at age 4 months. He also had craniosynostosis. His affected father and grandfather had cherubism and clubbing of the fingers. Cherubism was mapped to region 4p16. Because of the associated craniosynostosis, we excluded the FGFR3 gene as a candidate gene for cherubism. Am. J. Med. Genet. 95:325–331, 2000. © 2000 Wiley‐Liss, Inc. |
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| Keywords: | cherubism FGFR3 craniosynostosis clubbing |
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