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Pediatric Radiology

, Volume 18, Issue 2, pp 93–102 | Cite as

Metaphyseal chondrodysplasia, Schmid type Clinical and radiographic deliniation with a review of the literature

  • R. S. Lachman
  • D. L. Rimoin
  • J. Spranger
Review

Abstract

Analysis of 20 cases of metaphyseal chondrodysplasia, Schmid type as well as a review of the world literature reveals a specific autosomal dominant disorder that was often over-diagnosed in the past, sometimes resulting in incorrect genetic counselling. Significant radiologic features include an enlarged capital femoral epiphysis in early childhood, coxa vara, greater involvement of the distal femoral metaphysis than the proximal, anterior rib changes and a normal spine. Chondroosseous morphology is not specific. Presentation in nonfamilial cases is no earlier than the second year of life.

Keywords

Public Health Early Childhood Genetic Counselling Radiologic Feature World Literature 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1988

Authors and Affiliations

  • R. S. Lachman
    • 5
    • 1
    • 2
  • D. L. Rimoin
    • 1
    • 2
  • J. Spranger
    • 3
    • 4
  1. 1.Department of PediatricsUCLA School of MedicineTorranceUSA
  2. 2.Division of Medical GeneticsUCLA School of MedicineTorranceUSA
  3. 3.Department of PediatricsJ. Gutenberg UniversityMainzFederal Republic of Germany
  4. 4.Division of Medical GeneticsJ. Gutenberg UniversityMainzFederal Republic of Germany
  5. 5.Department of Radiology Box 27Harbor UCLA Medical CenterTorranceUSA

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