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Heterogeneity of metatropic dysplasia

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Abstract

Metatropic dysplasia is a neonatally manifest entity that is characterized clinically by a rapidly progressing kyphoscoliosis leading to severe shortening of the originally long trunk (“metatropsim”). Major radiographic features include flattening and defective ossification of the vertebral bodies, a narrow thorax and a marked hypoplasia of the basilar portions of the ilia with crescent-shaped iliac crests. There is some evidence of genetic heterogeneity. From five personal observations and from a review of the literature we conclude that metatropic dysplasia comprises at least three genetic entities: (1) a nonlethal type with autosomal recessive transmission; (2) a nonlethal dominant type and (3) a lethal type with death before or shortly after birth and possibly autosomal recessive inheritance. A careful clinical and radiologic analysis permits their classification and differentiation from similar, not yet well-delineated disorders.

Attention is also drawn to the posibility of atlanto-axial instability in metatropic dysplasia which may cause severe neurologic defects.

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Authors and Affiliations

  1. Kinderklinik der Universität Mainz, Langenbeckstr. 1, D-6500, Mainz, Germany

    M. Beck & J. Spranger

  2. Children's Hospital, Mar del Plata, Argentinia

    M. Roubicek

  3. Royal Children's Hospital, 3052, Parkville, Victoria, Australia

    J. G. Rogers

  4. Presbyterian University Hospital of Pittsburgh, 15213, PA, USA

    P. Naumoff

Authors
  1. M. Beck
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  2. M. Roubicek
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  3. J. G. Rogers
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  4. P. Naumoff
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  5. J. Spranger
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Supported by a grant of the Stiftung Volkswagenwerk and of the Humboldstiftung (to M.R.)

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Beck, M., Roubicek, M., Rogers, J.G. et al. Heterogeneity of metatropic dysplasia. Eur J Pediatr 140, 231–237 (1983). https://doi.org/10.1007/BF00443368

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  • DOI: https://doi.org/10.1007/BF00443368

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