Osteogenesis imperfecta in childhood: cardiac and renal manifestations.
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.
Vetter
U
U
Kinderklinik, Universität Ulm, Federal Republic of Germany.
Maierhofer
B
B
Müller
M
M
Lang
D
D
Teller
W M
WM
Brenner
R
R
Frohneberg
D
D
Wörsdörfer
O
O
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