a report of two memebers an of iranian family affected by autosomal recessive osteopetrosis
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Osteopetrosis a report of two Iranian patients with autosomal recessive inheritance pattern
In the rare hereditary bone disorder of osteopetrosis, reduced bone resorption function leads to both the development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration, typically associated with extramedullary hemopoiesis and hepatosplenomegaly, results in anemia and thrombocytopenia and nerve entrapment accounts for p...
متن کاملOsteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern
In the rare hereditary bone disorder of osteopetrosis, reduced bone resorption function leads to both the development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration, typically associated with extramedullary hemopoiesis and hepatosplenomegaly, results in anemia and thrombocytopenia; and nerve entrapment accounts for ...
متن کاملosteopetrosis a report of two iranian patients with autosomal recessive inheritance pattern
in the rare hereditary bone disorder of osteopetrosis, reduced bone resorption function leads to both the development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. marrow obliteration, typically associated with extramedullary hemopoiesis and hepatosplenomegaly, results in anemia and thrombocytopenia and nerve entrapment accounts for p...
متن کاملAutosomal recessive osteopetrosis
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...
متن کاملCranial CT of autosomal recessive osteopetrosis.
Eight infants with radiographic and bone biopsy evidence of autosomal recessive osteopetrosis were evaluated by cranial CT. The clinical presentations and CT characteristics support the theory that this disorder exhibits severe and mild variants. At an early stage the severe variant demonstrates small optic canals, small orbits with proptosis, and a small nasoethmoid complex without significant...
متن کاملAutosomal recessive osteopetrosis: diagnosis, management, and outcome.
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عنوان ژورنال:
مجله سازمان نظام پزشکی جمهوری اسلامی ایرانجلد ۳۱، شماره ۳، صفحات ۲۵۰-۲۵۵
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