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Osteopetrosis in two siblings: two case reports.

Satish Yadav1, Shiv Chalise2, Shipra Chaudhary3

  • 1Department of Pediatrics and Adolescent Medicine, B. P. Koirala Institute of Health Sciences, Dharan, Nepal. doctorsat_99@hotmail.com.

BMC Research Notes
|January 31, 2016
PubMed
Summary
This summary is machine-generated.

This study reports a milder form of osteopetrosis in two siblings, characterized by anemia, hepatosplenomegaly, and hearing loss. Diagnosis was confirmed by increased bone density, highlighting this rare inherited bone disorder.

Area of Science:

  • Genetics and rare diseases
  • Pediatric bone disorders
  • Metabolic bone diseases

Background:

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  • Osteopetrosis is a rare inherited metabolic bone disorder with severe (infantile) and milder (adult) forms.
  • Symptoms include skeletal sclerosis, impaired vision/hearing, hepatosplenomegaly, and anemia.
  • Diagnosis relies on clinical presentation and increased bone density on imaging.