Fracture Treatment in Intermediate Autosomal Recessive Osteopetrosis OrthoSuperSite

Description: Osteopetrosis is a rare bone dysplasia, characterized by failure of bone resorption and persistence of calcified chondroid and primitive bone thought to be due to functional deficiency of osteoclasts. The effects of osteoclastic dysfunction may primarily or secondarily affect several organ systems, including skeletal, endocrine, neurologic, hematopoetic, renal, immunologic, ophthalmologic and otorhinolaringologic systems.
In the skeletal system the pathologic process includes failure of normal skeletal growth and remodeling, failure of normal bone healing, failure of hematopoesis and abnormal development of cranial neural foramina with resultant cranial neuropathies.
This article presents a case of 4 relatives who presented with fractures and myelodysplastic anemia of varying severity.
ORTHOPEDICS July 2007;30(7):577. Fracture Treatment in Intermediate Autosomal Recessive Osteopetrosis by Martin Rysavy, MD, PhD; K. P. Arun, FRCS; A. Wozniak, FRCS