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Osteogenesis imperfecta in childhood: cardiac and renal manifestations

  • Medical Genetics
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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.

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Abbreviations

OI:

osteogenesis imperfecta

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Author notes

  1. U. Vetter

    Present address: Bone Research Branch, National Institutes of Health, NIDR, Building 30, 20892, Bethesda, MD, USA

Authors and Affiliations

  1. Kinderklinik, Universität Ulm, D-7900, Ulm, Germany

    U. Vetter, B. Maierhofer, M. Müller, D. Lang, W. M. Teller & R. Brenner

  2. Urologische Klinik, Universität Ulm, D-7900, Ulm, Germany

    D. Frohneberg

  3. Chirurgische Klinik, Universität Ulm, D-7900, Ulm, Germany

    O. Wörsdörfer

Authors
  1. U. Vetter
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  2. B. Maierhofer
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  3. M. Müller
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  5. W. M. Teller
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  7. D. Frohneberg
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Vetter, U., Maierhofer, B., Müller, M. et al. Osteogenesis imperfecta in childhood: cardiac and renal manifestations. Eur J Pediatr 149, 184–187 (1989). https://doi.org/10.1007/BF01958277

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  • DOI: https://doi.org/10.1007/BF01958277

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