Clinical, radiographic, and genetic observations in 2 families with cleidocranial dysplasia

The clinical, radiographic, and molecular alterations in 7 individuals belonging to 2 families with clinical characteristics of cleidocranial dysplasia (CCD) were investigated. The patients underwent karyotype and genetic sequencing examinations. Cytogenetic analysis did not demonstrate any alterations. The next-generation sequencing technique employed for the molecular analysis revealed sequence variations in the RUNX2 gene: c.568C>T (p.Arg190Trp) in exon 4 in family A and c.1205del (p.Pro402Argfs*82) in exon 9 in family B. Incomplete closure of anterior fontanels, hypoplastic clavicles, and dental changes were observed in all 7 patients. Uncommon clinical findings, such as partial hearing loss and bilateral clavicular agenesis, were noted in some patients. According to the literature consulted, this is the first time that the total absence of the pubic bone in a study subject is being reported. The variable expression among individuals of the same family and between families A and B suggests the absence of a genotype-phenotype relationship. Early diagnosis allows the dentist to minimize the effects of changes associated with CCD by monitoring and providing appropriate treatment, and the identification of genetic sequence variations enables appropriate family genetic counseling.