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

Christina Gerth-Kahlert; Salvatore Grisanti; Eike Berger; Rene Höhn; Gabriele Witt; Ursula Jung

doi:10.1016/j.jaapos.2011.03.008

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

Christina Gerth-Kahlert^*, Salvatore Grisanti, Eike Berger, Rene Höhn, Gabriele Witt, Ursula Jung

^*Corresponding author for this work

Clinic of Ophtalmology

University of Rostock

4 Citations (Scopus)

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.

Original language	English
Journal	Journal of AAPOS
Volume	15
Issue number	3
Pages (from-to)	311-313
Number of pages	3
ISSN	1091-8531
DOIs	https://doi.org/10.1016/j.jaapos.2011.03.008
Publication status	Published - 06.2011

Research Areas and Centers

Research Area: Luebeck Integrated Oncology Network (LION)

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.jaapos.2011.03.008

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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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AU - Gerth-Kahlert, Christina

AU - Grisanti, Salvatore

AU - Berger, Eike

AU - Höhn, Rene

AU - Witt, Gabriele

AU - Jung, Ursula

PY - 2011/6

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N2 - 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.

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

Abstract

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