Metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndromePediatr Radiol 1997 Nov;27(11):864

Pediatr Radiol. 1997 May;27(5):436-41. doi: 10.1007/s002470050164.

Abstract

Four members of a family - three of whom have facial features mildly resembling those of the trichorhinophalangeal syndrome, type I, and all of whom manifested appendicular bony prominences similar to trichorhinophalangeal syndrome, type II - were found to have the radiographic findings of metachondromatosis. The radiographic manifestations and evolution of metachondromatosis are depicted in this report.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Exostoses, Multiple Hereditary / diagnosis*
  • Exostoses, Multiple Hereditary / diagnostic imaging
  • Exostoses, Multiple Hereditary / genetics
  • Facies
  • Female
  • Humans
  • Infant
  • Langer-Giedion Syndrome / diagnosis*
  • Male
  • Pedigree
  • Radiography