Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.

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osteoporosis 74 Title: Orphanet Journal of Rare DiseasesBisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome – new data and literature reviewJames F. H. PittawayChristopher HarrisonYumie
osteoporosis 775 bone formation and resorption. The skeletal features of HCS include acro-osteolysis of the digits and osteoporosis commonly affecting vertebrae and long bones. Fractures are a prominent feature and are associated with
osteoporosis 992 significant morbidity. There is no specific treatment, but with both acro-osteolysis and generalized osteoporosis , it is possible that anti-resorptive treatment might be of benefit. However, to date only a few case
osteoporosis 1963 variable and age-related, the data support a role for bisphosphonates in preventing or treating spinal osteoporosis in HCS, but bone loss from the lumbar spine may be rapid after cessation.BackgroundHajdu-Cheney syndrome
osteoporosis 2222 dominant condition associated with a distinctive skeletal phenotype that includes both generalized osteoporosis and localized acro-osteolysis [[1], [2]]. It presents in early childhood with characteristic dysmorphic
osteoporosis 2508 polycystic kidneys and heart disease [[3]–[5]]. Vertebral and long bone fractures, a consequence of the osteoporosis , are common. Other skeletal findings include premature tooth loss, fibular deformities, scoliosis, joint
osteoporosis 3619 histomorphometric evidence suggests that a high bone turnover state underlies the acro-osteolysis and spinal osteoporosis [[10], [11]]. A recent histomorphometric study has emphasized marked cortical osteopenia underlying
osteoporosis 4426 provide useful information on the effectiveness of bisphosphonate treatment on acro-osteolysis and osteoporosis in HCS.MethodsSeven patients (5 female; median age 13 years, range 6–39) were studied retrospectively.
osteoporosis 12360 bisphosphonate treatment is indicatedDiscussionHCS is a rare genetic condition, characterized by generalized osteoporosis and focal bone loss (acro-osteolysis and dental) [[1], [2]]. In the combined group we describe 75% of
osteoporosis 12607 had vertebral fractures. A number of previously published cases have suggested that the generalized osteoporosis , as assessed by lumbar spine BMD, is to some degree responsive to treatment using bisphosphonates [[12],
osteoporosis 13634 after the age of 15 – well before the age that peak skeletal mass is reached. Most forms of juvenile osteoporosis arise from the failure of bone acquisition rather than accelerated bone loss, but two of the cases illustrate

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