Cleidocranial dysplasia: clinico-radiological illustration of a rare case.
نویسندگان
چکیده
Cleidocranial dysplasia is an autosomal dominant condition caused by mutation of RUNX2, characterized by generalized dysplasia of the bones and teeth. Affected individuals have short stature, atypical facial features, and skeletal anomalies affecting mainly the skull and clavicle. The dental manifestations are mainly delayed exfoliation of the primary teeth and delayed eruption of the permanent teeth, with multiple impacted supernumeraries, and absence of cellular cementum. The frequency of this disorder is 1 per million individuals. Here we report a rare case of CCD in a 9-year-old male patient having most of the characteristic features of this syndrome. Interestingly, disorganized dentinal tubules were found in the roots of an extracted deciduous first molar, which seems to be a unique feature not reported previously.
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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A case of congenital pseudarthrosis of the clavicle is presented. Congenital pseudarthrosis of the clavicle is a rare entity that has poorly been documented in the pediatric literature. The etiology and pathogenesis still remain obscure. The clinical and radiological appearances are characteristic. Differential diagnosis lies between postpartum fracture, posttraumatic pseudarthrosis, cleidocran...
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ورودعنوان ژورنال:
- Journal of oral science
دوره 52 1 شماره
صفحات -
تاریخ انتشار 2010