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Article

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

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Jun 2011

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

Abstract excerpt

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...

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Source

Identifiers

PMID: 21777803
DOI: 10.1016/j.jaapos.2011.03.008

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation.PMID 21777803Read ↗

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Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.Semantic proximity Read ↗

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.Semantic proximity Read ↗

Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment.Semantic proximity Read ↗

Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations.Semantic proximity Read ↗

Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.Semantic proximity Read ↗

Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family.Semantic proximity Read ↗

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.Semantic proximity Read ↗

Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations.Semantic proximity Read ↗

Prenatal diagnosis of Pierre–Robin sequence as part of Stickler syndromeSemantic proximity Read ↗

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