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Comparative Study
. 2001 Nov 15;104(1):1-6.
doi: 10.1002/ajmg.10024.

A natural history of cleidocranial dysplasia

S C Cooper  1 , C M Flaitz, D A Johnston, B Lee, J T Hecht
Affiliations
Comparative Study

A natural history of cleidocranial dysplasia

S C Cooper et al. Am J Med Genet. .

Abstract

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia associated with clavicle hypoplasia and dental abnormalities. The condition is caused by mutations in the CBFA1 gene, a transcription factor that activates osteoblast differentiation. Clinical characteristics associated with CCD have previously been described in case reports and small case series. This study was undertaken to gain a more complete delineation of clinical complications associated with CCD. The study population was composed of 90 CCD individuals and 56 relative controls ascertained from genetic and dental practices in the United States, Canada, Europe, and Australia. A number of previously unrecognized complications were significantly increased including: genua valga, scoliosis, pes planus, sinus infections, upper respiratory complications, recurrent otitis media, and hearing loss. Primary Cesarean section rate was significantly increased compared to relative controls and the general population rate. Finally, dental abnormalities, including supernumerary teeth, failure of exfoliation of the primary dentition, and malocclusion, are serious and complex problems that require intervention. Clinical recommendations based on the results of this study are included.

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