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European Journal of Pediatrics

, Volume 140, Issue 3, pp 231–237 | Cite as

Heterogeneity of metatropic dysplasia

  • M. Beck
  • M. Roubicek
  • J. G. Rogers
  • P. Naumoff
  • J. Spranger
Original Investigations

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.

Key words

Dwarfism Metatropic dysplasia Osteochondrodysplasia Short stature Skeletal dysplasia 

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Copyright information

© Springer-Verlag 1983

Authors and Affiliations

  • M. Beck
    • 1
  • M. Roubicek
    • 2
  • J. G. Rogers
    • 3
  • P. Naumoff
    • 4
  • J. Spranger
    • 1
  1. 1.Kinderklinik der Universität MainzMainzGermany
  2. 2.Children's HospitalMar del PlataArgentinia
  3. 3.Royal Children's HospitalParkvilleAustralia
  4. 4.Presbyterian University Hospital of PittsburghUSA

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