Autosomal recessive osteopetrosis
: Report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.
A 15-year old girl was referred to us with possible diagnosis of osteopetrosis
according to her clinical features.
in mice lacking NF-[kappa]B1 and NF-[kappa]B2," Nature Medicine, vol.
Reverse LISS plate stabilisation of a subtrochanteric fracture of the femur in a patient with osteopetrosis
: Is this the answer?
Impaired osteoclastic bone resorption leads to osteopetrosis
in cathepsin-K-deficient mice.
The presence of an increased CK-BB fraction distinguishes osteopetrosis
from other sclerosing bone disorders (5).
Other risk factors include total parenteral nutrition for >1 week, young age (due to small sinusoidal lumens predisposing to easy occlusion), thalassemia major, osteopetrosis
, and hemophagocytic lymphohistiocytosis in children; all have been shown to increase the risk of hepatic endothelial injury and SOS .
Although the exact mechanisms that caused this typical fracture pattern are not clearly understood, it is believed that abnormal bone turnover results in brittle bone structure similar to osteopetrosis
Systemic diseases that can commonly affect the jaws include Paget's disease, osteopetrosis
, Caffey's disease, eosinophilic granuloma, brown tumor of hyperparathyroidism and, rarely, amyloid deposits.
The characteristic feature of malignant infantile osteopetrosis
(MIOP), an autosomal recessive disorder, is the decreased activity of osteoclasts leading to generalized bone osteosclerosis.
Children with multiple transfusions and receiving chelation therapy due to other causes like sickle cell anemia, osteopetrosis
, hereditary spherocytosis and auto immune hemolytic anemia were excluded from the study.
Finally a suite of applications are presented in the fields of bone tissue engineering, treatment of osteoarthritis, osteoporosis, and osteopetrosis
, stem cell transplantation, biomaterial scaffolding, and basic bone healing.
Carbonic anhydrase II deficiency syndrome: Recessive osteopetrosis
with renal tubular acidosis and cerebral calcification.