The Helena syndromes

Am J Med Genet A. 2006 Oct 1;140(19):2007-12. doi: 10.1002/ajmg.a.31415.

Abstract

The author gives a personal account on how he was introduced to the field of clinical genetics as a student of John Opitz in Helena, MT. That process was facilitated by the study of several malformation syndromes. Particularly instructive were the approaches to the cardio-facio-cutaneous, the Perlman, and the FG syndrome. These three conditions are briefly revisited with a critical perspective, made possible by the elapse of 20 years, since the time when the author became acquainted with them.

Publication types

  • Biography
  • Historical Article
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / history
  • Face / abnormalities
  • Fetal Macrosomia / genetics
  • Fetal Macrosomia / history
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / history
  • Genetics, Medical / history
  • Heart Defects, Congenital / genetics
  • Heart Defects, Congenital / history
  • History, 20th Century
  • History, 21st Century
  • Humans
  • Kidney / abnormalities
  • Montana
  • Skin Abnormalities / genetics
  • Skin Abnormalities / history
  • Syndrome

Personal name as subject

  • Giovanni Neri
  • John M Opitz