Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians | Zendy

Parminder Kaur | Zendy; Inusha Panigrahi | Zendy; Harleen Kaur | Zendy; Thakurvir Singh | Zendy; Chakshu Chaudhry | Zendy

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Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians

Author(s) -

Parminder Kaur,

Inusha Panigrahi,

Harleen Kaur,

Thakurvir Singh,

Chakshu Chaudhry

Publication year - 2021

Publication title -

case reports in genetics

Language(s) - English

Resource type - Journals

eISSN - 2090-6544

pISSN - 2090-6552

DOI - 10.1155/2021/7133508

Subject(s) - osteopetrosis , hepatosplenomegaly , medicine , short stature , phenotype , genetic heterogeneity , genetics , osteochondrodysplasia , pathology , pediatrics , biology , disease , gene

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.

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