title: [Marshall syndrome--case report].
abstract: A girl, 15, with Marshall syndrome, was hospitalized for retinal tear and detachment of the left eye. The results of ophthalmological examination and applied eye surgery have been described. The authors confirm the essential phenotypical overlap of Marshall and Stickler syndromes. This suggest that they are caused by variable expression of a differently mutated gene, probably the type II procollagen gene (COL2A1), known to play a part in the etiology of Stickler syndrome. This justifies the usage, by some authors, of the common name of Marshall-Stickler syndrome.
authors.affiliation: Kliniki Okulistycznej AM w Pozananiu.
authors.forename: M
authors.initials: M
authors.lastname: Liska
authors.forename: R
authors.initials: R
authors.lastname: Philips
authors.forename: M R
authors.initials: MR
authors.lastname: Krawczyński
authors.forename: K
authors.initials: K
authors.lastname: Pecold
authors.forename: A
authors.initials: A
authors.lastname: Latos-Bieleńska
mesh_terms: D000293:Adolescent; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D010641:Phenotype; D011347:Procollagen / Q000235:genetics; D012163:Retinal Detachment / Q000235:genetics / Q000601:surgery*; D013577:Syndrome
chemical_list: D011347:Procollagen
vernacular_title: Zespół Marshalla--opis przypadku.