Osteopetrosis

Case contributed by Pir Abdul Ahad Aziz Qureshi , 11 Dec 2021
Diagnosis certain
Changed by Mostafa Elfeky, 12 Dec 2021

Updates to Case Attributes

Body was changed:

Osteopetrosis is a rare hereditary disorder resulting from defective osteoclasts causing structurally abnormal bones which are weak and brittle. There are two subtypes of osteopetrosis which have distinct radiological features: 

  • -<p><strong>Osteopetrosis</strong> is a rare hereditary disorder resulting from defective <a href="/articles/osteoclasts">osteoclasts</a> causing structurally abnormal bones which are weak and brittle. There are two subtypes of osteopetrosis which have distinct radiological features: </p><ul>
  • +<p><a title="Osteopetrosis" href="/articles/osteopetrosis">Osteopetrosis</a> is a rare hereditary disorder resulting from defective <a href="/articles/osteoclasts">osteoclasts</a> causing structurally abnormal bones which are weak and brittle. There are two subtypes of osteopetrosis which have distinct radiological features: </p><ul>

References changed:

  • 1. Kolawole T, Hawass N, Patel P, Mahdi A. Osteopetrosis: Some Unusual Radiological Features with a Short Review. Eur J Radiol. 1988;8(2):89-95. - <a href="https://www.ncbi.nlm.nih.gov/pubmed/3383862">Pubmed</a>
  • 1. Kolawole TM, Hawass ND, Patel PJ et-al. Osteopetrosis: some unusual radiological features with a short review. Eur J Radiol. 1988;8 (2): 89-95.

Updates to Study Attributes

Findings was changed:

Diffuse bone sclerosis with bone within bone appearance, alternating dense and lucent lines in the metadiaphysis and Erlenmeyer flask deformity deformity of the tubular bones and sandwich vertebra appearance. Findings are consistent with osteopetrosis.

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