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An unusual case of short limbed dwarfism and thoracic dystrophy with normal spine, hands and feet

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Abstract

We report an unusual form of chondrodystrophy identified in a female infant at birth. She was severely delayed developmentally and expired at one year of age. The dwarfism was characterized by brachymelia, dysmorphic features and unusual radiologic findings of the extremities and thorax. The spine, hand and foot X-rays were normal. The clinical and radiologic manifestations are unique and unrelated to other described entities.

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References

  1. Langer L. O., Spranger, J. W., Greinacher I., Herdman, R. C.: Thanatophoric dwarfism. Radiology92, 285 (1969)

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  3. Naumoff, P.: Thoracic dysplasia in spondyloepiphysial dysplasla congenita. Am. J. Dis. Child.131, 653 (1977)

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Authors and Affiliations

  1. Department of Pediatrics, University of Louisville School of Medicine, Louisville, Kentucky, USA

    N. D. Dinno (Chld Evaluation Center, Associate Professor) & B. Weisskopf (Director, Child Evaluation Center, Professor)

  2. Department of Radiology, University of Louisville School of Medicine, Louisville, Kentucky, USA

    Loretta T. Shearer (Associate Clinical Professor)

  3. Child Evaluation Center Department of Pediatrics, University of Louisville, 334 E. Broadway, 40202, Louisville, KY, USA

    N. D. Dinno (Chld Evaluation Center, Associate Professor)

Authors
  1. N. D. Dinno
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  2. Loretta T. Shearer
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  3. B. Weisskopf
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Additional information

Supported in part by a Special Project Grant from the Maternal and Child Health Services, Department of Health, Education and Welfare, PHS-HSMHA-MCHS and a National Foundation —March of Dimes Birth Defect Center Grant

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Dinno, N.D., Shearer, L.T. & Weisskopf, B. An unusual case of short limbed dwarfism and thoracic dystrophy with normal spine, hands and feet. Pediatr Radiol 9, 105–108 (1980). https://doi.org/10.1007/BF00977673

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  • DOI: https://doi.org/10.1007/BF00977673

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