Cleidocranial Dysplasia-Unearthing the Treasure
نویسنده
چکیده
Cleidocranial dysplasia is an autosomal dominant condition caused by mutation of RUNX2, involving the skeleton and the teeth. It presents with a major finding of the hypoplasia or aplasia of clavicles along with late closure of the fontanels, presence of open skull sutures and multiple wormian bones. Although not frequent it can present to the dentist commonly with significant retention of multiple deciduous teeth, impaction or delay in eruption of permanent teeth and often with the presence of supernumerary teeth. Here we report a case of Cleidocranial dysplasia in a 30 year old male.
منابع مشابه
Familial Cleidocranial Dysplasia in a Neonate: A Case Report
Background: Cleidocranial dysplasia (CCD) is a rare inherited skeletal dysplasia, with an incidence of 1 case per 1000,000 individuals. It is a form of predominantly autosomal dominant inheritance and is associated with a mutation in runt related transcription factor-2 gene mapped on chromosome 6p21. This disease primarily affects the bones formed by intramembranous ossification and is characte...
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Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...
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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...
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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...
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