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CASE REPORT
Year : 2013  |  Volume : 3  |  Issue : 2  |  Page : 45-47

Osteopetrosis: trephine biopsy an essential tool


1 Department of Pathology and Transfusion Medicine, Santokba Durlabhji Memorial Hospital, Jaipur, Rajasthan, India
2 Department of Pediatrics, Santokba Durlabhji Memorial Hospital, Jaipur, Rajasthan, India

Correspondence Address:
Rohit Jain
Department of Pathology and Transfusion Medicine, Santokba Durlabhji Memorial Hospital, Jaipur, Rajasthan
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2230-7095.136496

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Osteopetrosis is a group of rare genetic diseases, consequent on absent or defective osteoclasts. A large number of genes have been found to be associated with the defect, each of which results in a clinically variable phenotype with regards to age at presentation and severity of disease. This makes the disease a clinical diagnostic challenge. We present one such case which was diagnosed on trephine biopsy performed to understand the cause of the presence of blast cells in peripheral blood of an 8-month-old infant.


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