Cleidocranial Dysplasia: A Case Report with Clinical, Radiographic, and Genetic Findings
نویسندگان
چکیده
Ya zış ma Ad re si / Add ress rep rint re qu ests to: Filiz Namdar Pekiner Marmara University, Faculty of Dentistry, Department of Oral Diagnosis and Radiology, Guzelbahce Buyukciftlik Sok. No: 6, 34365 Nisantasi, Istanbul Turkey Telefon / Phone: +90-212-231-9120 Faks / Fax: +90-212-246-5247 Elekt ro nik pos ta ad re si / E-ma il add ress: [email protected] Ka bul ta ri hi / Da te of ac cep tan ce: 30 Nisan 2012 / April 30, 2012
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 Cleidocranial dysplasia (CCD) is characterized by aplasia or hypoplasia of the clavicles, characteristic craniofacial malformations, and the presence of numerous supernumerary and unerupted teeth. It affects bones derived from both intra-membranous and endochondral ossification. Incidence has been reported as 1 in 10,00,000. It is caused by mutation in the gene encoding transcripti...
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متن کاملDelayed diagnosis of cleidocranial dysplasia in an adult: a case report.
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 ...
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متن کاملMultiple unerupted and supernumerary teeth in a patient with cleidocranial dysplasia
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.
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