Cleidocranial dysplasia (CCD) is a rare syndrome usually caused by an autosomal dominant gene, although 40% of cases of CCD appear spontaneously with no apparent genetic cause. This condition is characterized by several cranial malformations and underdevelopment, absence of the clavicles, and multiple supernumerary and impacted permanent teeth. The diagnosis of this condition is usually based o...

Despite accumulated knowledge of various signalings regulating bone formation, the molecular network has not been clarified sufficiently to lead to clinical application. Here we show that heterozygous glycogen synthase kinase-3beta (GSK-3beta)-deficient mice displayed an increased bone formation due to an enhanced transcriptional activity of Runx2 by suppressing the inhibitory phosphorylation a...

Cleidocranial dysostosis is a generalised dysplasia of bone and teeth with predominantly autosomal dominant inheritance. A new case referred to the Paediatric Department at the British Military Hospital, Rinteln is reported and a review of the literature discussed.

INTRODUCTION Cleidocranial Dysplasia (CCD) is a rare inherited autosomal dominant congenital syndrome that occurs in approximately one out of every one million individuals worldwide; it primarily affects bones that undergo intra-membranous ossification, generally the skull and clavicles. Other bones may be affected such as the long bones, spine, pelvis, bones of hands and feet showing hypoplasi...

A male neonate was antenatally diagnosed with cleidocranial dysplasia on the basis of prenatal ultrasound findings and molecular testing of the RUNX2 gene. The patient presented with urosepsis at 24 days of life and subsequently developed apneas after endoscopic examination of the vocal cords. Computed tomography and MRI studies of the head revealed crowding of the posterior fossa with tonsilla...

We report two cases of cleidocranial dysplasia, which was managed without significant craniofacial osteotomy. A mother and daughter, both of normal intelligence, presented with central forehead depression, mid-face hypoplasia, and blepharoptosis. The fact that they have an identically deformed face implied a genetic basis. In both patients, radiologic evaluation revealed the underdeveloped maxi...

Cleidocranial dysostosis is a rare congenital skeletal disorder, associated with total or partial absence of clavicles, delayed closure of cranial fontanelles and brachycephalic skull. There is delayed exfoliation of primary dentition and eruption of permanent teeth. Presence of multiple supernumerary teeth and morphologic abnormalities of the maxilla and mandible are also observed. The inciden...

BACKGROUND Spine deformity can be idiopathic (more than 80% of cases), neuromuscular, congenital or neurofibromatosis-related. However, there are many disorders that may also be involved. We present our experience treating patients with scoliosis or other spine deformities related to rare clinical entities. METHODS A retrospective study of the records of a school-screening study in North-West...