Congenital Heart Disease and Robinow Syndrome: Coincidence or an Additional Component of the Syndrome?

Am J Med Genet. 1990 Dec;37(4):519-21. doi: 10.1002/ajmg.1320370418.


We report on a girl with Robinow syndrome and pulmonary atresia with ventricular septal defect (VSD). Seven cases of Robinow syndrome with congenital heart defect (CHD) have now been described, 5 of whom had stenosis or atresia of the pulmonic valve. This suggests that CHD, especially right ventricular outlow obstruction, may be a component manifestation of this syndrome in some cases. Since early recognition of this type of heart lesion can minimize morbidity by facilitating optimal surgical therapy, thorough cardiac evaluation of all patients with Robinow syndrome seems warranted.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple*
  • Ductus Arteriosus, Patent / complications
  • Dwarfism / complications*
  • Facial Bones / abnormalities*
  • Female
  • Heart Defects, Congenital / complications*
  • Heart Septal Defects, Ventricular / complications
  • Humans
  • Infant, Newborn
  • Pulmonary Artery / abnormalities
  • Pulmonary Artery / surgery
  • Syndrome