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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Anomalies of craniofacial skeleton and teeth in cleidocranial dysplasia.

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia ( CCD) in man. Recently, a mouse model of CCD has been generated (Cbfal +/-) [Komori et al., 1997], and disturbances of osteoclast differentiation have been documented. It has been shown that these animals exhibit hypoplastic clavicles and nasal bones, and retarded ossification of parietal, interparietal, and supraoccipital bones. Humans with CCD show all these features, including severely retarded ossification of the cranial base, strongly suggesting that both intramembranous ossification and endochondral ossification are affected. In addition, CCD patients have multiple supernumerary teeth and delayed tooth eruption. The present report presents 3D reconstructions of computerised tomography (CT) scans of the craniofacial region of a CCD boy examined at both 1 and 7 years of age. The anomalies in craniofacial skeleton and teeth are analysed and compared to the findings of our previous clinical studies and to the findings in the animal model. Based on the available information, we suggest that osteoblast, osteoclast, and dentinoclast differentiation may be disturbed in CCD.[1]


  1. Anomalies of craniofacial skeleton and teeth in cleidocranial dysplasia. Kreiborg, S., Jensen, B.L., Larsen, P., Schleidt, D.T., Darvann, T. J. Craniofac. Genet. Dev. Biol. (1999) [Pubmed]
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