Cleidocranial Dysplasia—An Enigma Among Anomalies
نویسندگان
چکیده
منابع مشابه
Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient
Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typica...
متن کاملChromosome anomalies among livebirths.
A considerable proportion of heritable disease in man is a consequence of the presence of constitutional chromosome anomalies. We need to distinguish between constitutional anomalies which are present in the germ cell or which arise during the early cleavage divisions of a zygote, so that all, or a substantial proportion, of the cells carry the abnormality, and acquired somatic abnormalities wh...
متن کاملCleidocranial dysplasia
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder resulting in the skeletal and dental abnormalities due to the disturbance in ossification of the bones. Clavicle is the most commonly affected bone. The prevalence of CCD is one in millions of live births. In this report, we present a case of 10-years-old boy showing features of this condition.
متن کاملFamilial Cleidocranial Dysplasia
Cleidocranial dysplasia or mutational dysostosis or cleidocranial dysostosis is a generalized skeletodental dysplastic disorder, inherited in an autosomal dominant pattern. The expression of this disorder can vary widely in severity, even within the same family. This is a relatively rare disease and has no standard effective treatment option as of yet. Here we present a case report of affected ...
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ژورنال
عنوان ژورنال: Journal of Orthopaedic & Sports Physical Therapy
سال: 1988
ISSN: 0190-6011,1938-1344
DOI: 10.2519/jospt.1988.10.5.184