Cleidocranial dysplasia (CCD) is an autosomal dominant disease with a wide range of expression, characterized by clavicular hypoplasia, retarded cranial ossification, delayed bone and teeth development, supernumerary teeth, stomatognathic, craniofacial and skeletal abnormalities. This paper presents a case of CCD in a female with brachycephalic skull, depressed frontal bone and nasal bridge, hy...

Dear Sir, The early identification of hereditary syndromes is essential for planning medical and surgical interventions for reducing the risk of complications [1]. Unfortunately, clinical phenotypes of hereditary syndromes in the first years of life and in mild cases are often poorly characterized. Some disease symptoms are also common to several different genetic conditions. Cleidocranial dysp...

Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. The disease gene has been mapped to chromosome 6p21 within a region containing CBFA1, a member of the runt family of transcription factors. Mutations in the CBFA1 g...

Cleidocranial dysplasia (CCD), an autosomal dominant disorder with a prevalence of 1 in 1,000,000 individuals, is mainly caused by mutations in Runx2, a gene required for osteoblastic differentiation. It is generally characterized by hypoplastic clavicles, narrow thorax, and delayed or absent fontanel closure. Importantly, its orofacial manifestations, including midfacial hypoplasia, retained p...

Cleidocranial dysplasia (CCD), also known as Scheuthauer Marie-Sainton Syndrome, is a rare autosomal dominant inherited disorder, characterized by general retardation in bone ossification, hypoplastic clavicles and various craniofacial and dental abnormalities. Early diagnosis of CCD can be difficult, because the majority of craniofacial abnormalities become obvious only during adolescence. We ...

Patients with cleidocranial dysplasia (CCD) commonly present with significant dental problems, such as retention of multiple deciduous teeth, impaction or delay in eruption of permanent teeth and, often, the presence of supernumerary teeth. Several approaches have been described for the management of such patients. We report 2 cases illustrating the shift in the management paradigm from edentul...