Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians. (3rd November 2021)

• Record Type: Journal Article
• Authors: Kaur, Parminder; Panigrahi, Inusha; Kaur, Harleen; Singh, Thakurvir; Chaudhry, Chakshu
• Other Names: Mittal Balraj Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2021(2021)
• Publication Date: 2021-11-03
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2021/7133508
• Languages: English
• ISSNs: 2090-6544

Abstract

Abstract : 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.