Methods:A Chinese CCD family was collected and investigated by ascertainment. Comprehensive examination was performed for all available affected members. Clinical phenotypes were recorded and analyzed for the above individuals and the hereditary mode was determined in the family.
Results:A total of 7 individuals involving three generations were affected with CCD among the 19 members of the investigated Chinese family. The 4 available affected individuals exhibit typical clinical manifestations of CCD, including variable degrees of hypoplasia or aplasia of the clavicles, overdevelopment of the transverse diameter of the cranium, retardation in fontanel ossification and unerupted supernumerary permanent teeth. The disease phenotypes were transmitted in an autosomal dominant hereditary pattern in generations.
Conclusion:The pedigree here shows characteristic phenotypes and genetic mode for CCD. Early examination and proper diagnosis are of great importance for the future treatment and prevention.