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616 Possible Causes for Cerebellar Hypoplasia, Osteoporosis, X-Ray Abnormal

  • Ankylosing Spondylitis

    After AS diagnosis, a higher proportion of patients developed newly diagnosed cases of cardiovascular diseases, depression, osteoporosis, spinal fracture, IBD, psoriasis,[ncbi.nlm.nih.gov] Diagnosis requires showing sacroiliitis on x-ray.[merckmanuals.com] Clinical: Cerebral and cerebellar agyria-micropolygyria; cortical disorganization; glialmesodermal proliferation; neuronal heterotopias; hypoplasia of nerve tracts; hydrocephalus[dentisty.org]

  • Dyskeratosis Congenita

    Other findings include carious teeth, premature graying of hair, and osteoporosis. Approximately 50% of patients develop pancytopenia.[ncbi.nlm.nih.gov] Decreased root/crown ratio is attributed to abnormal tooth development. Taurodontism (enlarged pulp chambers of the teeth) may be noted on dental x-ray.[ncbi.nlm.nih.gov] hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.[ncbi.nlm.nih.gov]

  • Kyphoscoliosis

    Severe vertebral osteoporosis made it necessary to first perform posterior correction of the kyphosis and fusion.[ncbi.nlm.nih.gov] Chest X-ray showed severe kyphoscoliosis with a Cobb's angle of 120 0 [Figure 1] and patchy infiltrates.[joacc.com] hypoplasia Gait disturbance Pain Retrognathia Polymicrogyria Arthritis Hypertonia Ventriculomegaly Optic atrophy Narrow forehead Neonatal hypotonia Pachygyria Open mouth[mendelian.co]

  • Polyarthritis

    Bisphosphonates are the mainstay treatment for postmenopausal osteoporosis.[ncbi.nlm.nih.gov] When suspicion for a particular diagnosis is achieved, medical imaging in the form of X-rays or CT may prove useful in providing evidence to support the diagnosis.[belmarrahealth.com] Gillespie syndrome, an autosomal recessive form of aniridia, is associated with cerebellar ataxia and mental retardation seen in 2% of patients with aniridia.[eyewiki.aao.org]

  • Addison's Disease

    As the prevalence of Addison's disease is rising, and osteoporosis and fractures are associated with significant morbidity and increased mortality, attention to bone preservation[ncbi.nlm.nih.gov] MRI machines use radio waves and magnets to produce detailed pictures of the body’s internal organs and soft tissues without using x rays.[web.archive.org] Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes, Frontiers in Pediatrics[doi.org]

  • 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[ncbi.nlm.nih.gov] The bone scan shows abnormalities earlier than plain x-rays but does not distinguish between infection, fractures, and tumors.[msdmanuals.com] The brain parenchyma is frequently affected by the disease, with manifestations including cerebral atrophy, communicating hydrocephalus, and cerebellar hypoplasia.[ncbi.nlm.nih.gov]

  • Osteogenesis Imperfecta Type 5

    What Is Osteoporosis? Osteoporosis is a condition in which the bones become less dense and more likely to break.[onlymyhealth.com] In severely affected people, X-rays may show characteristic abnormalities – the result of previous fractures.[netdoctor.co.uk] […] of vascular compromise as the cause of brain stem cerebellar hypoplasia in OI.[jpgmonline.com]

  • Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

    Phenotype Torg syndrome (includes NAO syndrome): multiple, painless, subcutaneous nodules (interphalangeal joints, knees, feet, elbows, pretibial), mild to moderate osteoporosis[iofbonehealth.org] Skeletal limb abnormalities Thoracic spine x-ray WBC scan X-ray – skeleton Diagnosis and Tests ALP (Alkaline Phosphatase) Test American Association for Clinical Chemistry[chcrr.org] […] ataxia type 1 autosomal recessive cerebellar ataxia with mental retardation, see VLDLR-associated cerebellar hypoplasia autosomal recessive cerebellar hypoplasia with cerebral[mygenomics.com]

  • Cole-Carpenter Syndrome

    The panel diagnostics request form (German) for osteogenesis imperfecta and osteoporosis is available here.[humangenetik.uk-koeln.de] Diagnosis is typically based on medical imaging, including plain X-rays, and symptoms. Signs on medical imaging include abnormalities in all extremeties and the spine.[en.wikipedia.org] Next Document: Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: association or new syndrome?[biomedsearch.com]

  • Pulmonary Plasma Cell Granuloma

    […] inflammatory myopathy Idiopathic inflammatory myositis Idiopathic interstitial pneumonia Idiopathic intracranial hypertension Idiopathic isolated micropenis Idiopathic juvenile osteoporosis[orpha.net] A 53-year-old man was pointed out an abnormal shadow in the lung field on a chest X-ray film taken for routine physical examination.[jlc.jst.go.jp] hypoplasia Isolated biliary atresia Isolated blepharochalasis Isolated bone marrow mastocytosis Isolated brachycephaly Isolated cerebellar agenesis Isolated cerebellar vermis[orpha.net]

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