The treatment of fractures in osteopetrosis can be complicated and difficult. We describe the use of an industrial grade tungsten carbide drill bit in the treatment of one of these complex fractures. An industrial grade tungsten carbide drill bit was used to fashion a medullary canal in the surgical treatment of a left peri-implant fracture of the neck of femur in a patient with osteopetrosis. ...

We report the case of a 30-year-old African-American male with osteopetrosis and hypophosphatemia, presenting with diffuse myalgias. Laboratory evaluation performed revealed a low serum phosphorus level with urinary phosphate wasting, low calcium, and 25-hydroxyvitamin D concentrations, as well as elevated alkaline phosphatase. Skull and pelvic radiographs revealed high bone density consistent ...

Osteopetrosis is a rare, inherited disease characterized by defects in osteoclastic function that results in defective bone resorption. When fractures are encountered, fixation is extremely difficult. Osteopetrosis patients have an increased predisposition to infection. If infection develops after a fracture, treatment is more difficult. In this paper, treatment is presented of a 49-year old fe...

Carbonic Anhydrase Type II Deficiency Syndrome (CADS) is a disease with an autosomal recessive inheritance that mainly includes characteristics of osteopetrosis, renal tubular acidosis and cerebral calcification. Pathological fractures, poor vision due to cranial nerve pressure, wide forehead, disproportionate mouth and jaw, physical and mental developmental delay are other features. In this pa...

Osteopetrosis is a group of diseases that affects the growth and remodeling of bone and characterized by over growth and sclerosis of bone, with thickening of the bony cortices, abnormal dental development and narrowing of the marrow cavities throughout the skeleton. It is an uncommon disease of unknown cause. A 5-year-old boy was suffering from infantile (severe form) osteopetrosis with cardia...

A 6 year old boy with clinical and radiological features of pycnodysostosis is described. In addition to pycnodysostosis he had a myelophthisic type of anaemia suggesting an overlap with osteopetrosis.

BACKGROUND Osteopetrosis is a rare, inherited, bone disorder, characterized by osteosclerosis, obliteration of the medullary cavity and calcified cartilage. The autosomal dominant form is compatible with a normal life span, although fractures often result from minimal trauma, due to the pathologic nature of bone. Osteomyelitis is common in patients with osteopetrosis because of a reduced resist...

BACKGROUND Osteopetrosis is a life-threatening, rare disorder typically resulting from osteoclast dysfunction and infrequently from failure to commitment to osteoclast lineage. Patients commonly present in infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, and bone marrow failure. In ∼70% of the patients there is a molecularly defined failure to maintain an acid p...

UNLABELLED INTRODUCTION Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton. The absence or malfunction of osteoclasts is found to be strongly associated with the disease evolution. Currently, four clinically distinct forms of the disease have been recognized: the infantile autosomal recessive osteopetrosis, the malignant and the intermediate forms, a...