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Pediatric and Developmental Pathology

, Volume 1, Issue 5, pp 405–412 | Cite as

Morphologic Observations in a Case of Lethal Variant (Type I) Metatropic Dysplasia with Atypical Features: Morphology of Lethal Metatropic Dysplasia

  • M.J.  O'Sullivan
  • W.H.  McAllister
  • R.H.  Ball
  • S.L.  Teitelbaum
  • P.E.  Swanson
  • L.P.  Dehner
  • 10 Downloads

ABSTRACT

Metatropic dysplasia accounts for approximately 5\% of cases recorded by the International Skeletal Dysplasia Registry, with a single recorded lethal case. Four forms of the disease are currently recognized: type I, lethal autosomal recessive form; type II, nonlethal autosomal recessive form with survival to childhood; type III, autosomal dominant form with typical features, and type IV, a mild form with uncertain inheritance. The literature contains few well-documented reports of the histopathologic findings in metatropic dysplasia. In this report, we present the radiologic and histopathologic features in a case of type I metatropic dysplasia, with the unusual features of a persistent tail, unique lung dysmorphology, and thyroidal agenesis.

Key words: metatropic dysplasia, lethal, radiologic, histopathologic, persistent tail, lung dysmorphology, thyroidal agenesis 

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Copyright information

© Springer-Verlag New York Inc. 1998

Authors and Affiliations

  • M.J.  O'Sullivan
    • 1
  • W.H.  McAllister
    • 2
  • R.H.  Ball
    • 2
  • S.L.  Teitelbaum
    • 1
  • P.E.  Swanson
    • 1
  • L.P.  Dehner
    • 1
  1. 1.Department of Pathology, St. Louis Children's Hospital, Washington University Medical Center, 660 S. Euclid Avenue, St. Louis, MO 63110, USAUS
  2. 2.Department of Radiology, St. Louis Children's Hospital, Washington University Medical Center, 660 S. Euclid Avenue, St. Louis, MO 63110, USAUS

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