[A new form of familial metaphyseal dysplasia. Preliminary report]

Helv Paediatr Acta. 1982 May;37(2):151-60.
[Article in German]

Abstract

A new hereditary form of metaphyseal dysplasia is described. A clear distinction from other forms of metaphyseal dysplasias is evident by the lack of hyperostosis of the skull, an autosomal dominant inheritance, Erlenmeyer flask deformity of the distal femoral metaphyses, and characteristic deformations of the radius. The observation is discussed, and reference is given to an identical observation published earlier.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Chondrodysplasia Punctata / genetics*
  • Chondrodysplasia Punctata / pathology
  • Female
  • Femur / diagnostic imaging
  • Femur / pathology
  • Humans
  • Pedigree
  • Radiography
  • Radius / diagnostic imaging
  • Radius / pathology
  • Tibia / diagnostic imaging
  • Tibia / pathology