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osteogenesis imperfecta/crise épileptique
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[Lobstein's disease presenting with seizures].
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Osteogenesis imperfecta (OI) is a group of hereditary disorders most often due to an anomaly of collagen biosynthesis. Divers clinical manifestations are reported. Neurological manifestations are exceptional. A 40-year-old man with a history of multiple bone fractures was admitted for a generalized
Communicating hydrocephalus, basilar invagination, and other neurologic features in osteogenesis imperfecta.
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Osteogenesis imperfecta (OI) is anecdotally associated with macrocephaly, hydrocephalus, basilar invagination, and cerebral atrophy, but the frequency and the spectrum of neurologic features of this condition are poorly defined. We report our experience with 76 patients with OI seen at NIH.
Subdural hematoma as clinical presentation of osteogenesis imperfecta.
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Osteogenesis imperfecta is an inherited collagenous disease. The mildest form may present with less severe findings, for example blue sclera, but can also lead to significant handicap such as deafness or multiple bone fractures. We describe an 11-month-old female in whom bilateral chronic subdural
Neurologic profile in osteogenesis imperfecta.
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The clinically important neurlogic complications in 76 patients with OI seen at the NIH included brainstem compression from basilar invagination, skull fracture, and seizure disorders. Neuroimaging studies demonstrated sulcal prominence and ventriculomegaly consistent with communicating
Special form of osteoporosis in a 53-year-old man.
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Male osteoporosis often remains unrecognised. Osteoporotic fractures occur approximately 10 years later in men than in women due to higher peak bone mass. However, 30% of all hip fractures occur in men. Risk factors of osteoporotic fractures can be grouped into primary and secondary causes. We
Complications related to the administration of general anesthesia in 600 developmentally disabled dental patients.
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A total of 600 handicapped patients had dental rehabilitation under general anesthesia during an eight-year period. Handicaps included mental retardation, cerebral palsy, Down syndrome, seizure disorders, autism, cystic fibrosis, osteogenesis imperfecta, and muscular dystrophy. No significant
Pharmacological interventions for pain in children and adolescents with life-limiting conditions.
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BACKGROUND
Pain is one of the most common symptoms in children and young people (CYP) with life-limiting conditions (LLCs) which include a wide range of diagnoses including cancer. The current literature indicates that pain is not well managed, however the evidence base to guide clinicians is
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