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

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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.

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Authors and Affiliations

  1. Department of Pediatrics, UCLA School of Medicine, Torrance, California, USA

    R. S. Lachman & D. L. Rimoin

  2. Division of Medical Genetics, UCLA School of Medicine, Torrance, California, USA

    R. S. Lachman & D. L. Rimoin

  3. Department of Pediatrics, J. Gutenberg University, Mainz, Federal Republic of Germany

    J. Spranger

  4. Division of Medical Genetics, J. Gutenberg University, Mainz, Federal Republic of Germany

    J. Spranger

  5. Department of Radiology Box 27, Harbor UCLA Medical Center, 1000 W. Carson Street, 90509, Torrance, CA, USA

    R. S. Lachman

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  1. R. S. Lachman
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  2. D. L. Rimoin
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  3. J. Spranger
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Lachman, R.S., Rimoin, D.L. & Spranger, J. Metaphyseal chondrodysplasia, Schmid type Clinical and radiographic deliniation with a review of the literature. Pediatr Radiol 18, 93–102 (1988). https://doi.org/10.1007/BF02387549

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