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Chondrodysplasia punctata — Rhizomelic form

Pathologic and radiologic studies of three infants

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Abstract

Pathologic, ultrastructural and radiologic studies are described on 3 infants with the rhizomelic form of chondrodysplasia punctata. Radiologic criteria in the young infant include radiolucent coronal clefts dividing all or most of the thoracic and lumbar vertebral bodies, short humeri with flared metaphyses and punctate calcifications commonly present adjacent to the ossified ischial and pubic bones and less commonly in other locations. In late infancy and childhood the radiologic criteria include demineralization in all bones with slow maturation, flat vertebral bodies, short humeri and femora, metaphyseal flaring, especially in the distal humerus, proximal femur and proximal tibia, immature shape of pelvis, and disappearance of the punctate calcifications with advancing age. The histologic changes of the resting cartilage include areas of degenerating cartilage which had become partially calcified, cystic changes with severe disturbance of the maturation of the cartilage at the physeal plate, and the formation of cancellous bone directly on resting cartilage. Ultrastructural changes are characterized by degeneration of chondrocytes, delicate collagenous fibrils without visible periodicity, and the presence of flocculent material within greatly distended endoplasmic reticulum.

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Author information

Authors and Affiliations

  1. The Department of Pathology, University of Wisconsin Center for Health Sciences and Medical School, Madison, Wisconsin

    Enid F. Gilbert

  2. The Department Pediatrics, University of Wisconsin Center for Health Sciences and Medical School, Madison, Wisconsin

    Enid F. Gilbert & John M. Opitz

  3. The Department Wisconsin Clinical Genetics Center of the Department of Medical Genetics, University of Wisconsin Center for Health Sciences and Medical School, Madison, Wisconsin

    John M. Opitz

  4. The Department of Radiology, University of Wisconsin Center for Health Sciences and Medical School, 53 706, Madison, Wisconsin

    Justin J. Wolfson & Chirane Viseskul

  5. the Department of Pediatrics, University of Mainz, Mainz, Germany

    Jürgen W. Spranger

  6. Department of Radiology, University of Minnesota, Minneapolis

    Leonard O. Langer Jr.

Authors
  1. Enid F. Gilbert
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  2. John M. Opitz
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  3. Jürgen W. Spranger
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  4. Leonard O. Langer Jr.
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  5. Justin J. Wolfson
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  6. Chirane Viseskul
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Additional information

Supported in part by USPHS/NIH Grants GM 15422, GM 20130, and 5 K04 HD 18982. Submitted as Paper No. 1977 from the University of Wisconsin Laboratory of Genetics.

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Gilbert, E.F., Opitz, J.M., Spranger, J.W. et al. Chondrodysplasia punctata — Rhizomelic form. Eur J Pediatr 123, 89–109 (1976). https://doi.org/10.1007/BF00442639

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  • DOI: https://doi.org/10.1007/BF00442639

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