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Case report: 49, XXXXY syndrome and high myopia.

Abstract

49, XXXXY karyotype syndrome has been thought of as a variant of Klinefelter's syndrome. It has an incidence of between 1/85 000 to 1/100 000 live births. Typical clinical features include coarse faces, skeletal abnormalities, hypogenitalism and severe learning difficulties. Common ocular features include hypertelorism, epicanthic folds and up-slanting palpebral apertures. Here we report a case of high myopia and its successful correction leading to a positive personality change in one such patient. We advocate full ophthalmic examination, under anaesthesia if necessary, and a trial of refractive correction, even in children thought unlikely to tolerate such.

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  • Authors+Show Affiliations

    ,

    Department of Ophthalmology, Worcester Royal Infirmary, Charles Hastings Way, Worcester, UK. farhanqureshi101@hotmail.com

    Source

    MeSH

    Child
    Eyeglasses
    Humans
    Intellectual Disability
    Karyotyping
    Klinefelter Syndrome
    Male
    Myopia
    Patient Satisfaction
    Treatment Outcome

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    17718889

    Citation

    Qureshi, Farhan, and Geetha Thurairajan. "Case Report: 49, XXXXY Syndrome and High Myopia." Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (Optometrists), vol. 27, no. 5, 2007, pp. 500-1.
    Qureshi F, Thurairajan G. Case report: 49, XXXXY syndrome and high myopia. Ophthalmic Physiol Opt. 2007;27(5):500-1.
    Qureshi, F., & Thurairajan, G. (2007). Case report: 49, XXXXY syndrome and high myopia. Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (Optometrists), 27(5), pp. 500-1.
    Qureshi F, Thurairajan G. Case Report: 49, XXXXY Syndrome and High Myopia. Ophthalmic Physiol Opt. 2007;27(5):500-1. PubMed PMID: 17718889.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Case report: 49, XXXXY syndrome and high myopia. AU - Qureshi,Farhan, AU - Thurairajan,Geetha, PY - 2007/8/28/pubmed PY - 2008/3/15/medline PY - 2007/8/28/entrez SP - 500 EP - 1 JF - Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) JO - Ophthalmic Physiol Opt VL - 27 IS - 5 N2 - 49, XXXXY karyotype syndrome has been thought of as a variant of Klinefelter's syndrome. It has an incidence of between 1/85 000 to 1/100 000 live births. Typical clinical features include coarse faces, skeletal abnormalities, hypogenitalism and severe learning difficulties. Common ocular features include hypertelorism, epicanthic folds and up-slanting palpebral apertures. Here we report a case of high myopia and its successful correction leading to a positive personality change in one such patient. We advocate full ophthalmic examination, under anaesthesia if necessary, and a trial of refractive correction, even in children thought unlikely to tolerate such. SN - 0275-5408 UR - https://www.unboundmedicine.com/medline/citation/17718889/Case_report:_49_XXXXY_syndrome_and_high_myopia_ L2 - https://doi.org/10.1111/j.1475-1313.2007.00502.x DB - PRIME DP - Unbound Medicine ER -