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  • Title: Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation.
    Author: Gerth-Kahlert C, Grisanti S, Berger E, Höhn R, Witt G, Jung U.
    Journal: J AAPOS; 2011 Jun; 15(3):311-3. PubMed ID: 21777803.
    Abstract:
    Bilateral preretinal and vitreous hemorrhages in infants are rare and can present a diagnostic challenge, with nonaccidental trauma included in the differential diagnosis. We present the case of a 4-week-old boy in which a Pierre Robin sequence and a positive family history led to the clinical diagnosis of Stickler syndrome, which was confirmed by the identification of a disease-causing novel deletion of 2 nucleotides in the COL2A1 gene. This early association with Stickler syndrome has not been described previously.
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