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893 Possible Causes for Congenital Deafness, Severe Mental Retardation in Some Patients

Did you mean: Congenital Deafness, Severe Mental Retardation, in Some Patients

  • Bjornstad Syndrome

    Published on 06-Jul-2016 View 221 Download 5 Transcript BRIEF REPORTSPili Torti with Congenital Deafness(Bjornstad Syndrome): A Case ReportF. Loche, M.D.,* P.[documents.tips] We report on a patient with severe mental retardation and review the literature.[ncbi.nlm.nih.gov] Mental retardation or hypogonadism in some patients. No specific anesthetic implications should arise from this disorder.[accessanesthesiology.mhmedical.com]

  • Mucopolysaccharidosis 1H

    mental retardation.[medical-dictionary.thefreedictionary.com] There may be other abnormalities such as congenital glaucoma and retinal degeneration. Audiometry often reveals the existence of deafness.[medcaretips.com] Hunter Gertrud Hurler Meinhard von Pfaundler Richard White Bernhard Ellis Sir Wilfrid Percy Henry Sheldon Rare hereditary and congenital metabolical disease characterized[whonamedit.com]

  • Wolfram Syndrome

    We present two unrelated patients with Wolfram syndrome, both of whom had the four cardinal features and several other neurologic abnormalities.[ncbi.nlm.nih.gov] A pair of siblings, followed over 17 years, who manifest congenital or early childhood cataracts, diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.[ncbi.nlm.nih.gov] MRIs showed widespread atrophie changes throughout the brain, some of which correlated with the major neurologic features of the syndrome. 1992 by AAN Enterprises, Inc.[neurology.org]

  • CHARGE Syndrome

    mental retardation 80 percent of individuals are affected by growth retardation, and this growth retardation is usually detected in the first six months of life when the[verywell.com] CHARGE syndrome is one of the leading causes of congenital deafness and blindness in children.[ncbi.nlm.nih.gov] This syndrome is recognised as being the major cause of congenital deafness and blindness. In infected children, neurological disorders increase with age.[icm-institute.org]

  • Mucopolysaccharidosis

    mental retardation, along with an early MPS diagnosis.[ncbi.nlm.nih.gov] In the severe form there is severe mental retardation and loss of skills.[omicsonline.org] […] an attenuated form of MPS III confirms the need for a specific evaluation of urinary GAGs in all young and adult subjects showing a not well-defined or not particularly severe[ncbi.nlm.nih.gov]

  • TORCH Syndrome

    mental retardation in this country.[healio.com] Significant clinical signs in congenital toxoplasmosis include diffuse intracerebral calcification, chorioretinitis, and microcephaly; congenital rubella can result in deafness[ncbi.nlm.nih.gov] The congenital infected babies show: Exceptionally small size relative to the gestational age (low birth weight). Deafness. Mental retardation. Seizures. Heart defects.[labpedia.net]

  • Leigh's Disease

    Additional possible symptoms: GAMT – behavioral disorder – including autistic behaviors; movement disorders SLC6A8 – growth retardation; (males) mild to severe mental retardation[umdf.org]

  • Miller Dieker Syndrome

    Children with MDS also suffer from severe mental retardation, growth delay, epilepsy and occasionally hypsarrythmia on electroencephalogram.[content.iospress.com] There may also be congenital heart defects, hypospadias, colobomata of the iris, renal anomalies, cleft lip and/or palate and deafness.[epilepsydiagnosis.org] Surviving individuals have severe mental retardation. They have low set ears, severe vision problems , a high forehead and a small mouth with a wide upper lip.[nethealthbook.com]

  • Smith-Magenis Syndrome

    Her facial anomalies, brachydactyly, severe mental retardation, and self-injuring behavior could be attributed to SMS, whereas the cerebellar vermis hypoplasia, hypotonia,[ncbi.nlm.nih.gov] A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.[doi.org] We present two patients, a 12 year old Turkish and a 7 year old Italian girl, with severe mental retardation, multiple congenital malformations and a constitutional interstitial[ncbi.nlm.nih.gov]

  • Fetal Erythroblastosis

    In the most severe cases, individuals may appear to have severe mental retardation but in fact have normal or superior intelligence but are trapped in immobile, dysfunctional[doi.org]

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