Case Report

Oral Radiology

, Volume 24, Issue 2, pp 80-84

Autosomal recessive osteopetrosis: case report of two siblings

  • Arun SubramaniamAffiliated withDepartment of Oral Medicine and Radiology, Dr. D. Y. Patil Dental College and Hospital
  • , Asha SinghAffiliated withDepartment of Pedodontics, Dr. D. Y. Patil Dental College and Hospital
  • , Mahesh ChavanAffiliated withDepartment of Oral Medicine and Radiology, Dr. D. Y. Patil Dental College and Hospital Email author 
  • , Sanket KunteAffiliated withDepartment of Pedodontics, Dr. D. Y. Patil Dental College and Hospital

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Abstract

Malignant osteopetrosis is a rare congenital disorder of bone resorption, occurring in less than 1 in 200 000 births. It is caused by the failure of osteoclasts to resorb immature bone. We report on two siblings with autosomal recessive osteopetrosis. The prominent clinical features were short stature, progressive blindness, defective development of primary and permanent teeth, and anemia.

Key words

Osteopetrosis Autosomal recessive