Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group
نویسندگان
چکیده
منابع مشابه
Autosomal recessive osteopetrosis: diagnosis, management, and outcome.
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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 کاملOsteopetrosis
Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence o...
متن کاملMalignant infantile osteopetrosis: otolaryngological complications and management.
OBJECTIVES To inform otolaryngologists about upper airway obstruction requiring tracheotomy and other otolaryngological manifestations of malignant infantile osteopetrosis (MIOP) and to discuss pathophysiological features, management, and new treatment strategies in MIOP. DESIGN Ongoing case series combined with a retrospective chart review. SETTING International tertiary pediatric hospital...
متن کاملOral Manifestations of Osteopetrosis.
Osteopetrosis is a hereditary disorder of bone characterized by sclerosis of bone and decreased marrow spaces. Due to depressed marrow function, this disorder can cause anemia, hepatosplenomegaly, recurrent infections and osteomyelitis of jaw. Excessive bone deposition in skull base leads to narrowing of foramina and cranial nerve compression. Bone marrow transplantation is the only curative tr...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2017
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2017-01127