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Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation


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.

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.

Copyright © 2011 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

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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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Ophthalmology Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2011
Deposited On:15 Jan 2012 09:08
Last Modified:05 Apr 2016 15:21
Publisher:Elsevier
ISSN:1091-8531
Publisher DOI:10.1016/j.jaapos.2011.03.008
PubMed ID:21777803
Permanent URL: http://doi.org/10.5167/uzh-54749

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