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

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

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.

Original languageEnglish
Pages (from-to)405-412
Number of pages8
JournalPediatric and Developmental Pathology
Volume1
Issue number5
DOIs
StatePublished - Jan 1 1998

Keywords

  • Histopathologic
  • Lethal
  • Lung dysmorphology
  • Metatropic dysplasia
  • Persistent tail
  • Radiologic
  • Thyroidal agenesis

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