title: Osteogenesis imperfecta in childhood: cardiac and renal manifestations.
abstract: We examined 58 children aged 1-16 years with various forms of osteogenesis imperfecta (OI). Congenital cardiac malformations were diagnosed in 4 children (valvular aortic stenosis, 2 with atrial septal defect II, Fallot Tetralogy). Two additional children developed holosystolic mitral valve prolapse and regurgitation. Children suffering from a severe clinical course (type III according to the Sillence classification) showed aortic root dilatation (28%) and increased septal (40%) and posterior left ventricular wall thickening (68%) on initial evaluation. All three parameters were significantly correlated to body surface area. Kidney stones and renal papillary calcifications were detected in 4 children. Cardiovascular abnormalities and nephrolithiasis may be important extraskeletal manifestations of childhood OI.
authors.affiliation: Kinderklinik, Universität Ulm, Federal Republic of Germany.
authors.forename: U
authors.initials: U
authors.lastname: Vetter
authors.forename: B
authors.initials: B
authors.lastname: Maierhofer
authors.forename: M
authors.initials: M
authors.lastname: Müller
authors.forename: D
authors.initials: D
authors.lastname: Lang
authors.forename: W M
authors.initials: WM
authors.lastname: Teller
authors.forename: R
authors.initials: R
authors.lastname: Brenner
authors.forename: D
authors.initials: D
authors.lastname: Frohneberg
authors.forename: O
authors.initials: O
authors.lastname: Wörsdörfer
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004452:Echocardiography; D006330:Heart Defects, Congenital / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D007223:Infant; D007669:Kidney Calculi / Q000175:diagnosis / Q000209:etiology*; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000150:complications / Q000151:congenital*; D014463:Ultrasonography