Pycnodysostosis- a rare disorder with distinctive craniofacial dysmorphia. A case report
Pycnodysostosis is a rare autosomal recessive condition caused by the mutation of CTSK gene. CTSK regulates the activity of Cathepsin K which is responsible for osteoclast-mediated bone resorption. This mutation causes the bones to become dense, sclerotic, brittle, and thus, prone to fracture. Affec...
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| Format: | Article |
| Language: | English |
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Elsevier
2021-10-01
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| Series: | Journal of Oral Biology and Craniofacial Research |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2212426821000750 |
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| author | Anka Sharma Anirudh Upmanyu Amit R. Parate Vikrant O. Kasat |
| author_facet | Anka Sharma Anirudh Upmanyu Amit R. Parate Vikrant O. Kasat |
| author_sort | Anka Sharma |
| collection | DOAJ |
| description | Pycnodysostosis is a rare autosomal recessive condition caused by the mutation of CTSK gene. CTSK regulates the activity of Cathepsin K which is responsible for osteoclast-mediated bone resorption. This mutation causes the bones to become dense, sclerotic, brittle, and thus, prone to fracture. Affected individuals have normal cognitive development and life expectancy, however, the quality of life depends on the early diagnosis of the condition. The patient presents with striking clinical (short stature, brachydactyly) and radiological (frontal and parieto-occipital bossing, open sutures, and fontanelles, acro-osteolysis of terminal phalanges) features making the diagnosis clinico-radiographic. In atypical or mild cases with overlapping features, gene mapping is advocated. A plethora of dental anomalies and characteristic craniofacial dysmorphia puts the dentist in a position to diagnose such a case. |
| format | Article |
| id | doaj-art-ee3d4d78ff4e4ffe9ddcb61d6f87be6c |
| institution | Kabale University |
| issn | 2212-4268 |
| language | English |
| publishDate | 2021-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Oral Biology and Craniofacial Research |
| spelling | doaj-art-ee3d4d78ff4e4ffe9ddcb61d6f87be6c2024-11-23T06:28:51ZengElsevierJournal of Oral Biology and Craniofacial Research2212-42682021-10-01114529535Pycnodysostosis- a rare disorder with distinctive craniofacial dysmorphia. A case reportAnka Sharma0Anirudh Upmanyu1Amit R. Parate2Vikrant O. Kasat3Department of Oral Medicine and Radiology, Government Dental College and Hospital, Aurangabad, Maharashtra, 431001, India; Corresponding author.Private Practitioner, IndiaDepartment of Oral Medicine and Radiology, Government Dental College and Hospital, Aurangabad, Maharashtra, 431001, IndiaDepartment of Oral Medicine and Radiology, Government Dental College and Hospital, Aurangabad, Maharashtra, 431001, IndiaPycnodysostosis is a rare autosomal recessive condition caused by the mutation of CTSK gene. CTSK regulates the activity of Cathepsin K which is responsible for osteoclast-mediated bone resorption. This mutation causes the bones to become dense, sclerotic, brittle, and thus, prone to fracture. Affected individuals have normal cognitive development and life expectancy, however, the quality of life depends on the early diagnosis of the condition. The patient presents with striking clinical (short stature, brachydactyly) and radiological (frontal and parieto-occipital bossing, open sutures, and fontanelles, acro-osteolysis of terminal phalanges) features making the diagnosis clinico-radiographic. In atypical or mild cases with overlapping features, gene mapping is advocated. A plethora of dental anomalies and characteristic craniofacial dysmorphia puts the dentist in a position to diagnose such a case.http://www.sciencedirect.com/science/article/pii/S2212426821000750Acro-osteolysisBrachydactylyPycnodysostosisShort stature |
| spellingShingle | Anka Sharma Anirudh Upmanyu Amit R. Parate Vikrant O. Kasat Pycnodysostosis- a rare disorder with distinctive craniofacial dysmorphia. A case report Journal of Oral Biology and Craniofacial Research Acro-osteolysis Brachydactyly Pycnodysostosis Short stature |
| title | Pycnodysostosis- a rare disorder with distinctive craniofacial dysmorphia. A case report |
| title_full | Pycnodysostosis- a rare disorder with distinctive craniofacial dysmorphia. A case report |
| title_fullStr | Pycnodysostosis- a rare disorder with distinctive craniofacial dysmorphia. A case report |
| title_full_unstemmed | Pycnodysostosis- a rare disorder with distinctive craniofacial dysmorphia. A case report |
| title_short | Pycnodysostosis- a rare disorder with distinctive craniofacial dysmorphia. A case report |
| title_sort | pycnodysostosis a rare disorder with distinctive craniofacial dysmorphia a case report |
| topic | Acro-osteolysis Brachydactyly Pycnodysostosis Short stature |
| url | http://www.sciencedirect.com/science/article/pii/S2212426821000750 |
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