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Significats de stickler syndrome en anglès

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Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence (see this term), bone disorders, and sensorineural deafness (10% of cases)

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        síndrome de stickler
        Ús de stickler syndrome en anglès
        1
        Stickler syndrome is a hereditary connective tissue disease transmitted by AD pattern.
        Pubmed
        2
        Subjects: Forty-six affected individuals from 29 different families segregating Stickler syndrome.
        Pubmed
        3
        The main problem encountered with Stickler syndrome, however, is usually tearing and detachment of the retinas.
        The Irish Times
        4
        This represents the first published account of a patient with both Stickler syndrome and X-linked retinoschisis.
        Pubmed
        5
        I have a hereditary condition called Stickler Syndrome.
        The Irish Times
        6
        The overall sensorineural hearing loss in type I Stickler syndrome is typically mild and not significantly progressive.
        Pubmed
        7
        Main outcome measures: The degree of foveal hypoplasia and the best-corrected visual acuity in patients with Stickler syndrome.
        Pubmed
        8
        Conclusions: A mild foveal hypoplasia with a persistence of the IRL is characteristic of eyes with Stickler syndrome.
        Pubmed
        9
        Participants: A total of 39 eyes of 25 patients with genetically confirmed Stickler syndrome were studied.
        Pubmed
        10
        Methods: All of the patients had mutations in the COL2A1 gene and were diagnosed with Stickler syndrome.
        Pubmed
        11
        Ted, from Farnsfield, Nottinghamshire, has Stickler syndrome - which caused his retinas to detach resulting in him becoming blind at the age of two.
        BBC
        12
        Genetic testing revealed mutations in the COL2A1 and RS1 genes, confirming a dual diagnosis of Stickler syndrome and X-linked retinoschisis, respectively.
        Pubmed
        13
        The onset and degree of hearing loss associated with COL11A1 mutations are useful clinical features to differentiate Marshall syndrome from the phenotypically similar Stickler syndrome.
        Pubmed