Pycnodysostosis: In the Indian Population – A Case Report with Review of the Literature
Bone disorders having different causes, such as metabolic, genetic, and environmental, are well known and each of them has a characteristic clinical and radiographic appearance. Pycnodysostosis is one such rare bone disease that manifests as generalized osteosclerosis of the skeleton because of decr...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2023-01-01
|
| Series: | Journal of Primary Care Dentistry and Oral Health |
| Subjects: | |
| Online Access: | http://www.jpcdoh.org/article.asp?issn=2772-3534;year=2023;volume=4;issue=3;spage=108;epage=115;aulast=Yadav |
| _version_ | 1797231769341132800 |
|---|---|
| author | Anuradha Yadav Chitrang Dixit Kajal Malhotra C A Smriti |
| author_facet | Anuradha Yadav Chitrang Dixit Kajal Malhotra C A Smriti |
| author_sort | Anuradha Yadav |
| collection | DOAJ |
| description | Bone disorders having different causes, such as metabolic, genetic, and environmental, are well known and each of them has a characteristic clinical and radiographic appearance. Pycnodysostosis is one such rare bone disease that manifests as generalized osteosclerosis of the skeleton because of decreased bone turnover. Some of the unique radiographic and clinical features distinguish it from other bone disorders, such as osteogenesis imperfect, osteopetrosis, and cleidocranial dysplasia. Recognition of these signs is important to make a diagnosis and prevent further complications. We report a case of a 24-year-old male, who presented with a chief complaint of dirty and malaligned teeth and was unhappy with his facial appearance. General examination features which drew attention were short stature, beaking of the nose, and frontal and parietal bossing. Radiographically, open fontanelles, wormian bones, and dental abnormalities were evident. |
| first_indexed | 2024-04-24T15:49:39Z |
| format | Article |
| id | doaj.art-cd9e5971a302479fa336341ddc48484c |
| institution | Directory Open Access Journal |
| issn | 2772-3534 2772-3542 |
| language | English |
| last_indexed | 2024-04-24T15:49:39Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Primary Care Dentistry and Oral Health |
| spelling | doaj.art-cd9e5971a302479fa336341ddc48484c2024-04-01T12:53:27ZengWolters Kluwer Medknow PublicationsJournal of Primary Care Dentistry and Oral Health2772-35342772-35422023-01-014310811510.4103/jpcdoh.jpcdoh_26_23Pycnodysostosis: In the Indian Population – A Case Report with Review of the LiteratureAnuradha YadavChitrang DixitKajal MalhotraC A SmritiBone disorders having different causes, such as metabolic, genetic, and environmental, are well known and each of them has a characteristic clinical and radiographic appearance. Pycnodysostosis is one such rare bone disease that manifests as generalized osteosclerosis of the skeleton because of decreased bone turnover. Some of the unique radiographic and clinical features distinguish it from other bone disorders, such as osteogenesis imperfect, osteopetrosis, and cleidocranial dysplasia. Recognition of these signs is important to make a diagnosis and prevent further complications. We report a case of a 24-year-old male, who presented with a chief complaint of dirty and malaligned teeth and was unhappy with his facial appearance. General examination features which drew attention were short stature, beaking of the nose, and frontal and parietal bossing. Radiographically, open fontanelles, wormian bones, and dental abnormalities were evident.http://www.jpcdoh.org/article.asp?issn=2772-3534;year=2023;volume=4;issue=3;spage=108;epage=115;aulast=Yadavacro-osteolysiscathepsin kwormian bones |
| spellingShingle | Anuradha Yadav Chitrang Dixit Kajal Malhotra C A Smriti Pycnodysostosis: In the Indian Population – A Case Report with Review of the Literature Journal of Primary Care Dentistry and Oral Health acro-osteolysis cathepsin k wormian bones |
| title | Pycnodysostosis: In the Indian Population – A Case Report with Review of the Literature |
| title_full | Pycnodysostosis: In the Indian Population – A Case Report with Review of the Literature |
| title_fullStr | Pycnodysostosis: In the Indian Population – A Case Report with Review of the Literature |
| title_full_unstemmed | Pycnodysostosis: In the Indian Population – A Case Report with Review of the Literature |
| title_short | Pycnodysostosis: In the Indian Population – A Case Report with Review of the Literature |
| title_sort | pycnodysostosis in the indian population a case report with review of the literature |
| topic | acro-osteolysis cathepsin k wormian bones |
| url | http://www.jpcdoh.org/article.asp?issn=2772-3534;year=2023;volume=4;issue=3;spage=108;epage=115;aulast=Yadav |
| work_keys_str_mv | AT anuradhayadav pycnodysostosisintheindianpopulationacasereportwithreviewoftheliterature AT chitrangdixit pycnodysostosisintheindianpopulationacasereportwithreviewoftheliterature AT kajalmalhotra pycnodysostosisintheindianpopulationacasereportwithreviewoftheliterature AT casmriti pycnodysostosisintheindianpopulationacasereportwithreviewoftheliterature |