Cleidocranial dysplasia: A rare case report
Cleidocranial dysplasia (CCD) is a rare hereditary disease of unknown etiology which was previously known as cleidocranial dysostosis. It usually follows an autosomal dominant mode of transmission with no predilection of genre or ethnic group. It is caused by a mutation of RUNX2, characterized by ge...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Journal of Pharmacy and Bioallied Sciences |
| Subjects: | |
| Online Access: | http://www.jpbsonline.org/article.asp?issn=0975-7406;year=2023;volume=15;issue=6;spage=1335;epage=1337;aulast=Dhobley |
| _version_ | 1827861783864410112 |
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| author | Akshay A Dhobley Aparna V Thombre Dipak Ghatage Ranu Ingole Patil |
| author_facet | Akshay A Dhobley Aparna V Thombre Dipak Ghatage Ranu Ingole Patil |
| author_sort | Akshay A Dhobley |
| collection | DOAJ |
| description | Cleidocranial dysplasia (CCD) is a rare hereditary disease of unknown etiology which was previously known as cleidocranial dysostosis. It usually follows an autosomal dominant mode of transmission with no predilection of genre or ethnic group. It is caused by a 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 the absence of cellular cementum. The frequency of this disorder is 1 per million individuals. Here we report a rare case of CCD in a 23 year old female patient having most of the characteristic features of this syndrome. |
| first_indexed | 2024-03-12T13:44:25Z |
| format | Article |
| id | doaj.art-c7c8228ad06c4b22b9563a44881ace19 |
| institution | Directory Open Access Journal |
| issn | 0975-7406 |
| language | English |
| last_indexed | 2024-03-12T13:44:25Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Pharmacy and Bioallied Sciences |
| spelling | doaj.art-c7c8228ad06c4b22b9563a44881ace192023-08-23T09:45:24ZengWolters Kluwer Medknow PublicationsJournal of Pharmacy and Bioallied Sciences0975-74062023-01-011561335133710.4103/jpbs.jpbs_212_23Cleidocranial dysplasia: A rare case reportAkshay A DhobleyAparna V ThombreDipak GhatageRanu Ingole PatilCleidocranial dysplasia (CCD) is a rare hereditary disease of unknown etiology which was previously known as cleidocranial dysostosis. It usually follows an autosomal dominant mode of transmission with no predilection of genre or ethnic group. It is caused by a 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 the absence of cellular cementum. The frequency of this disorder is 1 per million individuals. Here we report a rare case of CCD in a 23 year old female patient having most of the characteristic features of this syndrome.http://www.jpbsonline.org/article.asp?issn=0975-7406;year=2023;volume=15;issue=6;spage=1335;epage=1337;aulast=Dhobleycleidocranial dysplasiadysostosisrunx2 |
| spellingShingle | Akshay A Dhobley Aparna V Thombre Dipak Ghatage Ranu Ingole Patil Cleidocranial dysplasia: A rare case report Journal of Pharmacy and Bioallied Sciences cleidocranial dysplasia dysostosis runx2 |
| title | Cleidocranial dysplasia: A rare case report |
| title_full | Cleidocranial dysplasia: A rare case report |
| title_fullStr | Cleidocranial dysplasia: A rare case report |
| title_full_unstemmed | Cleidocranial dysplasia: A rare case report |
| title_short | Cleidocranial dysplasia: A rare case report |
| title_sort | cleidocranial dysplasia a rare case report |
| topic | cleidocranial dysplasia dysostosis runx2 |
| url | http://www.jpbsonline.org/article.asp?issn=0975-7406;year=2023;volume=15;issue=6;spage=1335;epage=1337;aulast=Dhobley |
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