Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-54749
Gerth-Kahlert, C; Grisanti, S; Berger, E; Höhn, R; Witt, G; Jung, U (2011). Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation. Journal of AAPOS, 15(3):311-313.
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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.
Copyright © 2011 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.
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|Item Type:||Journal Article, refereed, original work|
|Communities & Collections:||04 Faculty of Medicine > University Hospital Zurich > Ophthalmology Clinic|
|Dewey Decimal Classification:||610 Medicine & health|
|Deposited On:||15 Jan 2012 09:08|
|Last Modified:||24 Dec 2013 19:19|
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