نتایج جستجو برای: osteopetrosis
تعداد نتایج: 905 فیلتر نتایج به سال:
Background : Pulmonary alveolar microlithiasis is a rare condition characterized by a diffuse bilateral filling of the majority of alveoli by calcific concretions called calcospherits. The etiology and pathogenesis are obscure. Osteopetrosis is a heterogenous group of heritable conditions with defect in bone resorption by osteoclasts. Materials & Methods: We report a case of pulmonary alveola...
Osteopetrosis is a heritable bone disorder that exhibits highly clinical and genetical heterogeneity, and is caused by defective osteoclastic resorption. The three main forms are the autosomal recessive severe (ARO), the intermediate autosomal and the autosomal dominant benign osteopetrosis forms. In the present study, the clinical, biochemical and radiological manifestations were described in ...
Keywords Disease name / synonyms Excluded Diseases Diagnosis criteria /definition Differential diagnosis Incidence Clinical Description Management including treatment Outcome Etiology Genetics Counseling Antenatal Diagnosis Unresolved questions References Abstract Autosomal recessive "malignant" osteopetrosis is a rare congenital disorder of bone resorption (less than 1:200,000 births). It is c...
Autosomal recessive “malignant” osteopetrosis is a rare congenital disorder of bone resorption. It is caused by the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and clinically to the signs and symptoms of bone marrow failure. Impaired bone remodelling causes bony narrowing of the cranial nerve foramina which results in cranial nerve, especi...
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