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401 Possible Causes for Cerebellar Hypoplasia, Osteoporosis, Periostitis

  • Osteogenesis Imperfecta

    […] recent years, denosumab, a human monoclonal antibody against receptor activator of nuclear factor κB ligand (RANKL), has become widely used as an anti-osteoclastic agent for osteoporosis[] Previously unreported features include vertebral fractures, periosteal cloaking, coxa vara, and extraskeletal features (muscular hypotonia, cardiac abnormalities).[] The brain parenchyma is frequently affected by the disease, with manifestations including cerebral atrophy, communicating hydrocephalus, and cerebellar hypoplasia.[]

  • Ankylosing Spondylitis

    After AS diagnosis, a higher proportion of patients developed newly diagnosed cases of cardiovascular diseases, depression, osteoporosis, spinal fracture, IBD, psoriasis,[] Marginal periostitis is seen, and bony density usually is preserved.[] Clinical: Cerebral and cerebellar agyria-micropolygyria; cortical disorganization; glialmesodermal proliferation; neuronal heterotopias; hypoplasia of nerve tracts; hydrocephalus[]

  • Camurati-Engelmann Syndrome

    […] children with CED by reducing the bone pain along with improvement in their activity levels, fat & muscle mass, without major effects on growth, blood pressure and spinal osteoporosis[] Skeletal radiographs of the long bones revealed cortical, periosteal, and endosteal thickenings… CONTINUE READING[] […] with malformations Hemochromatosis type 4 Seres-Santamaria Arimany Muniz syndrome Succinic semialdehyde dehydrogenase deficiency Ehlers-Danlos syndrome, kyphoscoliosis type Cerebellar[]

  • Melorheostosis

    The book details the pathologic and radiologic characteristics of all bone and joint diseases, including arthritis, metastatic bone disease, osteoporosis, trauma, osteomyelitis[] Melorheostosis Leri’s Disease, Flowing Periosteal Hyperostosis One of a group of sclerosing bone disorders Rare Cause is unknown Produces thickening of the endosteum and periosteum[]  hypoplasia 小脳低形成を伴う型 Kenny-Caffey dyspiasia ケニー-キャフイ-骨異形成症 Osteoectasia with hyperp osphatasia(juvenile Pagat) 高アルカリフオスフアターゼ症を伴う骨肥大症(若年性パジェット病) Metachondromatosis メタコンドロマトーシス[]

  • Raine Syndrome

    Updated clinical guidelines for diabetes, lipid disorders, obesity management, osteoporosis, and more, as well as essential treatment updates for the medical management of[] Raine syndrome (RS) is a bone dysplasia characterised by generalised osteosclerosis with periosteal bone formation, characteristic face, and brain abnormalities [MIM # 259775[] New features in our patient are cerebellar hypoplasia and pachygyria.[]

  • Hereditary Hyperphosphatasia

    The book details the pathologic and radiologic characteristics of all bone and joint diseases, including arthritis, metastatic bone disease, osteoporosis, trauma, osteomyelitis[] periostitis.[] TUBA8 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis PI4KA Popliteal pterygium syndrome type 1 IRF6 Popliteal pterygium syndrome, lethal type[]

  • Bruck Syndrome

    The main features are osteoporosis, bowing of the long bones, scoliosis due to vertebral deformities, and congenital joint contractures.[] The vertebral column of plod2 mutants was scoliotic with compressed vertebrae and excessive periosteal bone formation at the vertebral end plates.[] Catecholaminergic polymorphic ventricular tachycar Caveolinopathy CDK9 SYNDROME Central core myopathy Cerebellar hypoplasia Charcot Marie Tooh 2A Charcot Marie Tooh X-linked[]

  • Cole-Carpenter Syndrome

    The panel diagnostics request form (German) for osteogenesis imperfecta and osteoporosis is available here.[] Tibial periosteal reactions in soldiers: scintigraphic study of 29 cases of lower leg pain. Acta Orthop Scand 1991; 62(6):531-4. 34.[] Next Document: Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: association or new syndrome?[]

  • Osteogenesis Imperfecta Type 5

    What Is Osteoporosis? Osteoporosis is a condition in which the bones become less dense and more likely to break.[] Similarly, periosteal new bone formation was also observed only in relatively older patients.[] […] of vascular compromise as the cause of brain stem cerebellar hypoplasia in OI.[]

  • Lytic Bone Lesion

    Progressive focal bone destruction, including acroosteolysis and generalized osteoporosis.[] […] resembles nodular periostitis or periostitis deformans than hypertrophic osteoarthropathy.[] […] ataxia type 1 autosomal recessive cerebellar ataxia with mental retardation, see VLDLR-associated cerebellar hypoplasia autosomal recessive cerebellar hypoplasia with cerebral[]

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