Cleidocranial dysplasia: report of six clinical cases

ABSTRACT Cleidocranial dysplasia (CCD) is an autosomal‐dominant disorder that occurs due to mutations in the Cbfa 1 gene, also called Runx 2, located on the short arm of chromosome 6, affecting osteoblast skeletal‐specific bones that have intramembranous ossification. This condition is characterized by hypoplastic clavicles, short stature, and great clinical significance in the stomatognathic complex, with involvement of facial bones, changes in the eruption patterns, including multiple supernumerary and retained teeth. This study reports six subjects of the same family with CCD identified in the Dentistry Clinic of Oral Diagnosis Department, Universidade Paulista, Campus Sorocaba, Sao Paulo State, Brazil. All cases had clinical and radiographic aspects of this important condition, such as short stature, hypertelorism, severe mobility of the shoulders, and supernumerary and retained teeth. Due to the rare incidence and phenotypic manifestations, CCD can be easily misdiagnosed. The oral commitments are one of the main (functional and aesthetic) causes of complaints in these subjects; and a dentist must establish the diagnosis as early as possible, followed by behaviors and practices that can minimize harmful manifestations of the syndrome and improve health associated with oral and multidisciplinary integration offering improvements in quality of life of these subjects.