Autosomal recessive osteopetrosis: mechanisms and treatments
نویسندگان
چکیده
منابع مشابه
Autosomal 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 کاملAutosomal recessive osteopetrosis: diagnosis, management, and outcome.
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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 کاملPERSONAL PRACTICE Autosomal recessive osteopetrosis: diagnosis, management, and outcome
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...
متن کاملMild autosomal recessive osteopetrosis: successful treatment with bone marrow transplant.
We describe a 5 1/2 year old boy who was diagnosed with mild autosomal recessive osteopetrosis based on the presence of bony sclerosis, extramedullary haematopoeisis, leukoerythroblastosis and visual impairment who had an allogeneic bone marrow transplant from a matched sibling donor. Conditioning regime was busulphan 16 mg/kg and cyclophosphamide 200 mg/kg. Apart from transient hypercalcaemia,...
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ژورنال
عنوان ژورنال: Disease Models & Mechanisms
سال: 2021
ISSN: 1754-8403,1754-8411
DOI: 10.1242/dmm.048940