Cleidocranial dysplasia is a well-documented rare autosomal dominant skeletal dysplasia characterized by hypoplastic/aplastic clavicles, brachycephalic skull, patent sutures and fontanelles, midface hypoplasia, and abnormalities of dentition. Patients with cleidocranial dysplasia often complain about undesirable esthetic appearance of their forehead and skull. Notwithstanding many studies of mo...

BACKGROUND Cleidocranial dysplasia is a rare hereditary skeletal disorder due to heterozygous loss of function mutations in the RUNX2 gene that encodes runt-related transcription factor 2 (RUNX2). Here we report a 52 year-old woman with cleidocranial dysplasia due to a novel RUNX2 mutation. CASE DESCRIPTION A 52 year-old Han Chinese woman presented with short stature and skeletal dysplasia th...

BACKGROUND Cleidocranial dysplasia is a developmental anomaly of the skeleton and the teeth. This condition may be inherited, be transmitted as dominant characteristics in either sex, or even may appear spontaneously. It presents with skeletal defects of several bones, like partial or complete absence of clavicles, late closure of the fontanels, presence of open skull sutures and multiple wormi...

OBJECTIVE To describe a rare case of cleidocranial dysplasia, an autosomal dominant inherited disease involving the skeleton and teeth, with delayed diagnosis. CASE REPORT We report a 24-year-old man with cleidocranial dysplasia admitted with hearing loss, rhinolalia, dyspnea and fatigue. Partial absence of clavicles, a bell-shaped ribcage, an open frontal fontanel, unerupted permanent teeth ...

Cleidocranial dysplasia is an extremely rare familial disorder characterized by partial or complete absence of clavicles, characteristic craniofacial deformities, and the presence of numerous supernumerary and unerupted teeth. Here, the author reviews the striking radiographic findings of cleidocranial dysplasia in a 16-year-old adolescent boy who presented with delayed teeth eruption.

Indian Journal of Anaesthesia | Vol. 60 | Issue 10 | Oct 2016 782 Oral Med Oral Pathol Oral Radiol 2013;115:46‐55. 4. Bufalino A, Paranaíba LM, Gouvêa AF, Gueiros LA, Martelli‐Júnior H, Junior JJ, et al. Cleidocranial dysplasia: Oral features and genetic analysis of 11 patients. Oral Dis 2012;18:184‐90. 5. Almenrader N, Passariello M, Cascone P. Anaesthesia for a child with cleidocranial dyspla...

Cleidocranial dysplasia is an autosomal dominant heritable skeletal disorder. The characteristic features of cleidocranial dysplasia (CCD) may include hypoplasia of the clavicle, delayed closure of frontanelles, late tooth eruption, and other skeletal disorders. This case report describes clinical and radiographic manifestations at the age of 11 and 29 of a CCD patient, investigates the mutatio...

Cleidocranial dysplasia is a autosomal dominant inherited disorder, and it is the primary disorder of the bone. When the clinicians’ suspect this syndrome, they check for the presence of clavicles. In the literature, yet several other features are reported. Several researches including Chromosomal studies and dermatoglyphics are carried out, for the prevention and management strategies’. This r...