title: Dyssegmental dysplasia with glaucoma.
abstract: We report on a "new" syndrome in 2 unrelated children with some manifestations of Kniest dysplasia and with spine abnormalities suggestive of dyssegmental dysplasia. Glaucoma with important ocular impairment was associated with severe dwarfism. No mutation of the COL2A1 gene was detected. The inheritance of this new type of skeletal dysplasia in unknown.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U 393, Hôpital des Enfants Malades, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: Maroteaux
authors.forename: S
authors.initials: S
authors.lastname: Manouvrier
authors.forename: J
authors.initials: J
authors.lastname: Bonaventure
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
mesh_terms: D003094:Collagen / Q000235:genetics; D004392:Dwarfism / Q000175:diagnosis / Q000000981:diagnostic imaging; D005260:Female; D005901:Glaucoma / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging; D013577:Syndrome
chemical_list: D003094:Collagen