title: [Osteogenesis imperfecta and localized involvement of the spine: a peculiar form? Apropos of a familial case].
abstract: The authors report a particular type of Osteogenesis Imperfecta (O.I.), where the symptoms of bony fragility affected only the spine in three members of the same family, a father and his two daughters. This type of O.I. represents a type IA variety according to the classification of D. Silence. The authors while underlining the wide variety of this condition think that it is very likely that non recognition of the condition is in part due to the mild symptoms attributable to this lesion in the spine. This diagnosis has to be considered for all symptomatic osteoporosis of the vertebrae in children and adults. After eliminating other osteopenic conditions, diagnosis may be established on the basis of clinical signs and family history. Although this condition is related to a collagen metabolism deficiency particularly in type I, for the present condition there was no specific biochemical test available.
authors.affiliation: Service de Chirurgie de l'appareil locomoteur, Hôpital Cantonal Universitaire de Genève.
authors.forename: J P
authors.initials: JP
authors.lastname: Corsat
authors.forename: L
authors.initials: L
authors.lastname: Paunier
authors.forename: A
authors.initials: A
authors.lastname: Kaelin
mesh_terms: D000328:Adult; D000365:Age Determination by Skeleton; D002648:Child; D005192:Family Health; D005260:Female; D006801:Humans; D007593:Joint Instability / Q000235:genetics; D008297:Male; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging / Q000235:genetics*; D010024:Osteoporosis / Q000209:etiology*; D012590:Sclera / Q000002:abnormalities; D013122:Spinal Diseases / Q000000981:diagnostic imaging / Q000235:genetics*
vernacular_title: Osteogenesis imperfecta et atteinte localisée au rachis: forme particulière? A propos de l'observation d'une famille.