Complications
The autosomal recessive form is rapidly fatal as a result of overwhelming infection or repeated haemorrhage.
The autosomal dominant form is compatible with normal appearance and function unless there are complications. These include:
- pathological fracture
- cranial nerve compression, secondary to failure of skull foraminae to remain patent
- bone infection especially in the mandible following tooth extraction
Reference
- Penna S, Villa A, Capo V; Autosomal recessive osteopetrosis: mechanisms and treatments. Dis Model Mech. 2021 May 1;14(5)
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