Osteopetrosis is a fascinating, inherited polygenic disorder of bone metabolism characterized by a generalized increase in bone mass due to decreased bone resorption (1). While it is relatively rare, it provides important clues to the understanding of bone cell biology and the pathogenesis of metabolic bone diseases. Since osteopetrosis results from decreased osteoclastic bone resorption, its m...

BACKGROUND ClC-7 is a ubiquitous transporter which is broadly expressed in mammalian tissues. It is implied in the pathogenesis of lysosomal storage disease and osteopetrosis. Because of its endosomal/lysosomal localization it is still poorly characterized. METHODOLOGY/PRINCIPAL FINDINGS An electrophysiological characterization of rat ClC-7 using solid-supported membrane-based electrophysiolo...

OBJECTIVE Carbonic anhydrase (CA) II deficiency is a rare autosomal recessive disorder caused by mutation in the CA II gene that leads to osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification. Our aim is to present a patient with the classic triad of CA II deficiency syndrome to enhance the awareness about this rare syndrome. METHODS We describe the clinical and radiological...

Osteopetrosis is a rare disorder of osteoclastic bone resorption leading to hyperostosis. Albers-Schonberg disease, an autosomal dominant variant of osteopetrosis occurs in young adults and has a benign course. A 17 year old female presented with generalized weakness and pallor for last two months. She had insidious onset and gradually progressive loss of vision and hearing for last two years. ...

Autosomal recessive osteopetrosis is a rare congenital disorder characterized by the development of abnormally dense bones, acrocephaly, severe anemia, hepatosplenomegaly and progressive deafness and blindness. The clinical course is rapidly progressive and is lethal at a very young age in the absence of a bone marrow transplant. The failure to remodel developing bone that is the basis of the d...

We report the occurrence of spondylolysis and/or spondylolisthesis of the lumbar vertebrae in five patients with osteopetrosis, four of them having multiple lesions. The case histories indicate that spondylolysis had developed in the pathological bone as a result of increased stress and that it is an acquired lesion.