Autosomal dominant osteopetrosis

Changed by Ankit Balani, 26 Oct 2015
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Updates to Article Attributes

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Autosomal dominant osteopetrosis is the less severe type of osteopetrosis and should be considered and compared with the other type: autosomal recessive osteopetrosis.

In all osteopetrosis (whether AD or AR) there is a deficiency of osteoclast function and the result is that bone become dense. However, their altered internal architecture renders them weak. Therefore, patients have dense, sclerotic, fragile bones that fracture easily.

The autosomal dominant type is less severe than its autosomal recessive mate. Hence, it is also given the name "benign" or "adult" since patients survive into adulthood (something that is unlikely with the AR type).

Radiographic features

Classification

  • type I: pronounced osteosclerosis of cranial vault with clinical presentation as cranial nerve palsies
  • type II: end plate thickening of vertebrae (sandwich vertebra) and endobones in pelvis, increased risk of fracture
Complications
  • multiple fractures
  • multiple cranial nerve compression: leading to deafness, blindness
  • hepatospenomegaly: from extramedullary heamatopoesis due to bone red marrow replacement 
  • +</ul><h4>Classification</h4><ul>
  • +<li>type I: pronounced osteosclerosis of cranial vault with clinical presentation as cranial nerve palsies</li>
  • +<li>type II: end plate thickening of vertebrae (<a href="/articles/sandwich-vertebral-body">sandwich vertebra</a>) and endobones in pelvis, increased risk of fracture</li>

References changed:

  • 2. Bénichou OD, Laredo JD, de Vernejoul MC. Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patients. Bone. 2000;26 (1): 87-93. <a href="http://www.ncbi.nlm.nih.gov/pubmed/10617161">Pubmed citation</a><span class="auto"></span>

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