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7,435 Possible Causes for Early-Onset Coronary Artery Stenosis, Mental Retardation, Osteoporosis

  • Duchenne Muscular Dystrophy

    To date, only bisphosphonates have been used to treat osteoporosis in DMD.[] Some patients also have mild mental retardation. As DMD progresses, a wheelchair may be needed.[] Because of a mild mental retardation, a chromosome analysis and molecular karyotyping were performed, revealing a balanced translocation t(X;4)(p21;q31).arr(1-22,X)x2 dn with[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Klinefelter Syndrome

    Other symptoms include erectile dysfunction, osteoporosis, language and learning impairment and behavioral problems.[] This is the first description of KS, mosaicism (46,XY/47,XXY), associated with AN and mental retardation.[] Author information 1 Oasi Institute (IRCCS) for Research on Mental Retardation and Brain Aging, Troina, Italy., 2 Section of Endocrinology[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Gaucher Disease

    Type 1 Gaucher disease (GD1) is characterized by thrombocytopenia, anemia, an enlarged spleen, and liver as well as bone complications (Erlenmeyer flask deformity, osteoporosis[] retardation, seizures, bilateral vertical and horizontal gaze palsies and eventually turned out to be type 3b Gaucher disease.[] [] Frequent misdiagnoses include leukemia, lymphoma, rheumatoid arthritis and osteoporosis.[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Homocystinuria

    Most homocystinuria patients diagnosed in adulthood have severe osteoporosis, and homocystinuria is frequently mentioned as a cause of osteoporosis.[] Classic homocystinuria presents initially with ectopia lentis, mental retardation, seizures and marfanoid features.[] Osteoporosis - in two thirds of patients by age 15. Fatty infiltration of liver. Pancreatitis.[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Pseudo-Hurler Polydystrophy

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[] Many affected individuals develop low bone mineral density (osteoporosis), which weakens the bones and makes them prone to fracture.[] Patients with ML III are generally of normal intelligence (trait) or have only mild mental retardation.[]

  • Fragile X Syndrome

    Adults, however, may experience additional health challenges including CF-related diabetes and osteoporosis.[] Fragile X syndrome (FXS) is a well-recognized mental retardation syndrome with characteristic facial features and behavioural phenotype.[] The state of early estrogen deficiency leads to additional clinical consequences such as an increased risk of low bone density, earlier onset osteoporosis and bone fractures[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Alpha-Mannosidosis

    He is also at risk for osteoporosis, which we will need to monitor.[] All patients showed mental retardation and hearing loss from early childhood.[] Human alpha-mannosidosis is a lysosomal storage disorder characterized by mental retardation, dysostosis multiplex, and hepatosplenomegaly.[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Turner Syndrome

    Osteoporosis. Women with Turner syndrome often have low levels of the hormone estrogen, which can put them at risk for osteoporosis.[] RETARDATION.[] Turner syndrome is not associated with mental retardation (as had been described in older literature), although females with Turner Syndrome may have difficulty in spatial[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Medullary Cystic Kidney Disease

    , Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease NOTCH2 Alagille syndrome, Hajdu-Cheney syndrome PKD1 Polycystic[] Página 320 - Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental and sexual development, and cardiac murmur[] […] syndrome, Hyperostosis, endosteal, Osteosclerosis, Exudative vitreoretinopathy, Osteopetrosis late-onset form type 1, LRP5 primary osteoporosis AD/AR/Digenic 57 196 MAPKBP1[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Osteoporosis-Pseudoglioma Syndrome

    OBJECTIVES: To determine whether intravenous bisphosphonate treatment is helpful for children with osteoporosis pseudoglioma syndrome who have severe osteoporosis.[] Mental retardation, ligamentous laxity, and other reported anomalies are highly variable manifestations in the syndrome.[] Major features included bilateral cataracts, generalised osteopenia, severe platyspondyly, borderline mental retardation, muscular hypotonia, joint laxity, and ventricular[]

    Missing: Early-Onset Coronary Artery Stenosis

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