Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians
Osteopetrosis is a disorder characterized by high bone density, hepatosplenomegaly, visual and hearing loss, and anemia. Pycnodysostosis presents with short stature, acroosteolysis, and dense bones. We, hereby, present here a family with autosomal dominant osteopetrosis and also children with recess...
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| Format: | Article |
| Language: | English |
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Wiley
2021-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2021/7133508 |
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| author | Parminder Kaur Inusha Panigrahi Harleen Kaur Thakurvir Singh Chakshu Chaudhry |
| author_facet | Parminder Kaur Inusha Panigrahi Harleen Kaur Thakurvir Singh Chakshu Chaudhry |
| author_sort | Parminder Kaur |
| collection | DOAJ |
| description | Osteopetrosis is a disorder characterized by high bone density, hepatosplenomegaly, visual and hearing loss, and anemia. Pycnodysostosis presents with short stature, acroosteolysis, and dense bones. We, hereby, present here a family with autosomal dominant osteopetrosis and also children with recessive osteopetrosis and pycnodysostosis. The molecular confirmation was done in 3 cases. Genetic heterogeneity in clinical presentation is discussed here. Further studies will help in identifying epigenetic alterations and population-specific variants and also developing targeted therapies. |
| format | Article |
| id | doaj-art-a4dc6ca912f946b9b2f7a75e4a5e6faf |
| institution | Kabale University |
| issn | 2090-6552 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-a4dc6ca912f946b9b2f7a75e4a5e6faf2025-02-03T01:04:26ZengWileyCase Reports in Genetics2090-65522021-01-01202110.1155/2021/7133508Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-IndiansParminder Kaur0Inusha Panigrahi1Harleen Kaur2Thakurvir Singh3Chakshu Chaudhry4Department of PediatricsDepartment of PediatricsDepartment of PediatricsDepartment of PediatricsDepartment of PediatricsOsteopetrosis is a disorder characterized by high bone density, hepatosplenomegaly, visual and hearing loss, and anemia. Pycnodysostosis presents with short stature, acroosteolysis, and dense bones. We, hereby, present here a family with autosomal dominant osteopetrosis and also children with recessive osteopetrosis and pycnodysostosis. The molecular confirmation was done in 3 cases. Genetic heterogeneity in clinical presentation is discussed here. Further studies will help in identifying epigenetic alterations and population-specific variants and also developing targeted therapies.http://dx.doi.org/10.1155/2021/7133508 |
| spellingShingle | Parminder Kaur Inusha Panigrahi Harleen Kaur Thakurvir Singh Chakshu Chaudhry Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians Case Reports in Genetics |
| title | Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians |
| title_full | Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians |
| title_fullStr | Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians |
| title_full_unstemmed | Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians |
| title_short | Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians |
| title_sort | overlapping phenotypes in osteopetrosis and pycnodysostosis in asian indians |
| url | http://dx.doi.org/10.1155/2021/7133508 |
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