Cleidocranial dysplasia in son and father: Report of two rare cases with review of literature
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease, which is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e runt-related transcription factor 2 (RUNX2). The disease is characterized by a persistently open anterior fontanelle and skull sutures...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2012-01-01
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| Series: | Journal of Indian Academy of Oral Medicine and Radiology |
| Subjects: | |
| Online Access: | http://www.jiaomr.in/article.asp?issn=0972-1363;year=2012;volume=24;issue=2;spage=158;epage=161;aulast=Kumar |
| _version_ | 1828790132289830912 |
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| author | S Manoj Kumar Chandra Mouli P Mahesh Kumar S Kailasam |
| author_facet | S Manoj Kumar Chandra Mouli P Mahesh Kumar S Kailasam |
| author_sort | S Manoj Kumar |
| collection | DOAJ |
| description | Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease, which is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e runt-related transcription factor 2 (RUNX2). The disease is characterized by a persistently open anterior fontanelle and skull sutures, hypoplastic or aplastic clavicles, dental abnormalities, short stature, a wide pubic symphysis and a variety of other skeletal changes. A major finding of CCD is hypoplasia or aplasia of clavicular bones resulting in the ability of the patient to approximate the shoulders. Delayed closure of the anterior fontanelle and of metopic sutures causes frontal bossing. We report a rare case of CCD in a 15-year-old boy and in his father and emphasize the importance of clinical and radiographic findings in CCD. |
| first_indexed | 2024-12-12T01:25:07Z |
| format | Article |
| id | doaj.art-8db7262efcc74a7ba2ac84f9281ed8d7 |
| institution | Directory Open Access Journal |
| issn | 0972-1363 0975-1572 |
| language | English |
| last_indexed | 2024-12-12T01:25:07Z |
| publishDate | 2012-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Indian Academy of Oral Medicine and Radiology |
| spelling | doaj.art-8db7262efcc74a7ba2ac84f9281ed8d72022-12-22T00:43:08ZengWolters Kluwer Medknow PublicationsJournal of Indian Academy of Oral Medicine and Radiology0972-13630975-15722012-01-0124215816110.5005/jp-journals-10011-1285Cleidocranial dysplasia in son and father: Report of two rare cases with review of literatureS Manoj KumarChandra MouliP Mahesh KumarS KailasamCleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease, which is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e runt-related transcription factor 2 (RUNX2). The disease is characterized by a persistently open anterior fontanelle and skull sutures, hypoplastic or aplastic clavicles, dental abnormalities, short stature, a wide pubic symphysis and a variety of other skeletal changes. A major finding of CCD is hypoplasia or aplasia of clavicular bones resulting in the ability of the patient to approximate the shoulders. Delayed closure of the anterior fontanelle and of metopic sutures causes frontal bossing. We report a rare case of CCD in a 15-year-old boy and in his father and emphasize the importance of clinical and radiographic findings in CCD.http://www.jiaomr.in/article.asp?issn=0972-1363;year=2012;volume=24;issue=2;spage=158;epage=161;aulast=KumarCleidocranial dysplasiaUnclosed fontanelleFrontal bossingAplasia of clavicle |
| spellingShingle | S Manoj Kumar Chandra Mouli P Mahesh Kumar S Kailasam Cleidocranial dysplasia in son and father: Report of two rare cases with review of literature Journal of Indian Academy of Oral Medicine and Radiology Cleidocranial dysplasia Unclosed fontanelle Frontal bossing Aplasia of clavicle |
| title | Cleidocranial dysplasia in son and father: Report of two rare cases with review of literature |
| title_full | Cleidocranial dysplasia in son and father: Report of two rare cases with review of literature |
| title_fullStr | Cleidocranial dysplasia in son and father: Report of two rare cases with review of literature |
| title_full_unstemmed | Cleidocranial dysplasia in son and father: Report of two rare cases with review of literature |
| title_short | Cleidocranial dysplasia in son and father: Report of two rare cases with review of literature |
| title_sort | cleidocranial dysplasia in son and father report of two rare cases with review of literature |
| topic | Cleidocranial dysplasia Unclosed fontanelle Frontal bossing Aplasia of clavicle |
| url | http://www.jiaomr.in/article.asp?issn=0972-1363;year=2012;volume=24;issue=2;spage=158;epage=161;aulast=Kumar |
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