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1,374 Possible Causes for Cerebellar Hypoplasia, Osteoporosis

  • Dyskeratosis Congenita

    Other findings include carious teeth, premature graying of hair, and osteoporosis. Approximately 50% of patients develop pancytopenia.[ncbi.nlm.nih.gov] hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.[ncbi.nlm.nih.gov] Dyskeratosis congenita is a premature aging syndrome characterized by muco-cutaneous features and a range of other abnormalities, including early greying, dental loss, osteoporosis[ncbi.nlm.nih.gov]

  • 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 brain parenchyma is frequently affected by the disease, with manifestations including cerebral atrophy, communicating hydrocephalus, and cerebellar hypoplasia.[ncbi.nlm.nih.gov] Differential diagnosis Differential diagnoses include in utero diagnosis of chondrodysplasia, idiopathic juvenile osteoporosis, osteoporosis-pseudoglioma syndrome, Cole-Carpenter[orpha.net]

  • Cole-Carpenter Syndrome

    The panel diagnostics request form (German) for osteogenesis imperfecta and osteoporosis is available here.[humangenetik.uk-koeln.de] Next Document: Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: association or new syndrome?[biomedsearch.com] hypoplasia 300749 Mental retardation, with or without nystagmus 300422 Non-Hodgkin lymphoma, somatic 605027 CBS 21q22.3 Homocystinuria, B6-responsive and nonresponsive types[institutobernabeu.com]

  • 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] […] of vascular compromise as the cause of brain stem cerebellar hypoplasia in OI.[jpgmonline.com] Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett[books.google.com]

  • 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] Clinical: Cerebral and cerebellar agyria-micropolygyria; cortical disorganization; glialmesodermal proliferation; neuronal heterotopias; hypoplasia of nerve tracts; hydrocephalus[dentisty.org] Ankylosing spondylitis affects the axial skeleton over many years, predisposing to osteoporosis and subsequent fractures.[ncbi.nlm.nih.gov]

  • Bruck Syndrome

    The main features are osteoporosis, bowing of the long bones, scoliosis due to vertebral deformities, and congenital joint contractures.[ncbi.nlm.nih.gov] Catecholaminergic polymorphic ventricular tachycar Caveolinopathy CDK9 SYNDROME Central core myopathy Cerebellar hypoplasia Charcot Marie Tooh 2A Charcot Marie Tooh X-linked[igenomix.us] Bachrach, Osteoporosis in Childhood and Adolescence, Osteoporosis, 10.1016/B978-0-12-415853-5.00043-1, (1037-1086), (2013). U. Schwarze, T. Cundy, S. M. Pyott, H. E.[doi.org]

  • 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] […] ataxia type 1 autosomal recessive cerebellar ataxia with mental retardation, see VLDLR-associated cerebellar hypoplasia autosomal recessive cerebellar hypoplasia with cerebral[mygenomics.com] Most people with MONA develop low bone mineral density (osteopenia) and thinning of the bones (osteoporosis) throughout the skeleton.[ncbi.nlm.nih.gov]

  • Hoyeraal-Hreidarsson Syndrome

    […] failure, peripheral pancytopenia ( 93%) Others signs: Oesophageal stricture (14%) Pulmonary fibrosis (19%) Liver cirrhosis (5%) Hypogonadism (8%) Abnormal bone trabeculation, osteoporosis[atlasgeneticsoncology.org] We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay.[ncbi.nlm.nih.gov] Individuals affected with DC can exhibit other features including liver cirrhosis, osteoporosis, pulmonary fibrosis and learning difficulties. 80-90% of individuals affected[preventiongenetics.com]

  • Osteogenesis Imperfecta Type 3

    Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett[books.google.ro] A Chiari malformation is also present with inferior displacement of the cerebellar tonsils (t). This may be due to unfolding of the posterior lip of foramen magnum.[jnnp.bmj.com] The Resource Center is operated by the National Osteoporosis Foundation, in collaboration with the Paget Foundation and the Osteogenesis Imperfecta Foundation. 11/99[oif.org]

  • X-Linked Osteoporosis with Fractures

    […] formation of filamentous actin (F-actin) bundles, appears to be important in human bone health, on the basis of pathogenic variants in PLS3 in five families with X-linked osteoporosis[ncbi.nlm.nih.gov] hypoplasia.[disorders.eyes.arizona.edu] Osteoporosis with fractures as an X-linked trait has been reported by Sillence. 8 We now report data from five families with X-linked osteoporosis and fractures related to[nejm.org]

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