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517 Possible Causes for Cardiomyopathy, Mental Retardation, Round Face

  • Mucopolysaccharidosis

    Cardiac involvement is common in MPS patients and usually consists of progressive valvular thickening with incompetence and cardiomyopathy.[ncbi.nlm.nih.gov] The above data could reflect the reduced heparan sulfate storage in her tissues and organs, and in particular in the brain, consequently explaining her moderate mental retardation[ncbi.nlm.nih.gov] […] mucopolysaccharidosis type VI) is a rare lysosomal storage disorder in which the pathologic storage of glycosaminoglycans in various tissues can lead to severe symptoms, including cardiomyopathy[ncbi.nlm.nih.gov]

  • Congenital Muscular Dystrophy

    cardiomyopathy died at the ages of 2 years 1 month, and 7 years 4 months respectively.[ncbi.nlm.nih.gov] CONCLUSIONS: Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts.[ncbi.nlm.nih.gov] This 17-year-old girl presented with congenital muscular dystrophy, profound mental retardation, white matter changes and subtle structural abnormalities on brain MRI.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[ncbi.nlm.nih.gov] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch] Diarrhea Short stature Skeletal deformities Joint stiffness Inguinal or umbilical hernia Developmental delay Intellectual disability Hyperactivity Seizures Hepatomegaly Cardiomyopathy[symptoma.com]

  • Mucopolysaccharidosis 1

    Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[doctor.am] […] encephalopathy due to adenosine kinase deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperprolinemia type 1 Hyperprolinemia type 2 Hypertrophic cardiomyopathy[se-atlas.de]

  • Cri Du Chat Syndrome

    face, hypertelorism, broad nasal bridge, downward slanting palpebral fissures, and micrognathia.[ncbi.nlm.nih.gov] retardation. delta-catenin maps to a specific region in 5p15.2 that has been implicated in the mental retardation phenotype.[ncbi.nlm.nih.gov] It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure An infantile syndrome characterized[icd9data.com]

  • Pseudopseudohypoparathyroidism

    Hypofunction Diabetes mellitus types: ( type 1 , type 2 , MODY 1 2 3 4 5 6 ) · complications ( coma , angiopathy , ketoacidosis , nephropathy , neuropathy , retinopathy , cardiomyopathy[dictionnaire.sensagent.leparisien.fr] She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[doi.org] Brachydactyly mental retardation syndrome (BDMR, OMIM #600430) is a rare genetic disorder caused by aberrations of chromosomal region 2q37 and characterized with AHO-like[degruyter.com]

  • Barth Syndrome

    Grimm, W, Christ, M, Bach, J, Muller, HH, Maisch, B 2003 Noninvasive arrhythmia risk stratification in idiopathic dilated cardiomyopathy: results of the Marburg Cardiomyopathy[dx.doi.org] face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[childrenshospital.org] retardation, retinitis pigmentosa, hypogonadism, and spastic paraplegia.[icd9data.com]

  • Myotonic Dystrophy

    Moreover, morphological and functional changes indicative of subclinical cardiomyopathy have been demonstrated by means of cardiac magnetic resonance imaging (CMRI) and spectroscopy[ncbi.nlm.nih.gov] As the condition progresses, it usually affects the muscles in the: face (facio) shoulders (scapula) upper arms (humeral) upper back calves Around half of all people with[nhs.uk] Cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur.[curlie.org]

  • Becker Muscular Dystrophy

    Patients with Becker muscular dystrophy-related cardiomyopathy typically survive into their 30s, when they succumb to complications of cardiomyopathy or receive heart transplants[ncbi.nlm.nih.gov] As the condition progresses, it usually affects the muscles in the: face (facio) shoulders (scapula) upper arms (humeral) upper back calves Around half of all people with[nhs.uk] retardation.[ncbi.nlm.nih.gov]

  • Kearns Sayre Syndrome

    To the best of our knowledge, this is the youngest patient in the literature to have dilated cardiomyopathy in KSS.[ncbi.nlm.nih.gov] Her face was an unexpressed-rounded and greasy one with an incomplete palpebral ptosis bilaterally (Figure 1), the nails and teeth were normal She was very thin owing to generalized[ispub.com] Department of Pediatrics and Psychiatry and the Mental Retardation Research Center, UCLA School of Medicine, Los Angeles, 90024, California Stephen D Cederbaum Newcastle and[doi.org]

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