[Holt-Oram syndrome. Review and report of 2 familial cases]

Rev Port Cardiol. 1994 Dec;13(12):929-32, 893.
[Article in Portuguese]

Abstract

In 1960 Holt and Oram reported a family in which upper extremity malformations were associated with a secundum atrial septal defect. Since then, more than 200 cases have been reported with a wide spectrum of phenotypes. The authors present the cases of one mother and daughter with Holt-Oram Syndrome (SHO).

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Adult
  • Congenital Abnormalities / genetics
  • Female
  • Fingers / abnormalities*
  • Heart Defects, Congenital / genetics*
  • Humans
  • Syndrome