title: Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation.
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.
authors.affiliation: Department of Ophthalmology, University of Rostock, Rostock, Germany. chgerth@web.de
authors.forename: Christina
authors.initials: C
authors.lastname: Gerth-Kahlert
authors.forename: Salvatore
authors.initials: S
authors.lastname: Grisanti
authors.forename: Eike
authors.initials: E
authors.lastname: Berger
authors.forename: Rene
authors.initials: R
authors.lastname: Höhn
authors.forename: Gabriele
authors.initials: G
authors.lastname: Witt
authors.forename: Ursula
authors.initials: U
authors.lastname: Jung
mesh_terms: D001168:Arthritis / Q000175:diagnosis / Q000235:genetics*; D024043:Collagen Type II / Q000235:genetics*; D003240:Connective Tissue Diseases / Q000175:diagnosis / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010855:Pierre Robin Syndrome / Q000175:diagnosis / Q000235:genetics; D016133:Polymerase Chain Reaction; D012163:Retinal Detachment / Q000175:diagnosis / Q000235:genetics*; D012166:Retinal Hemorrhage / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D014821:Vitrectomy; D014823:Vitreous Hemorrhage / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II