Facio-cardio-renal syndrome: a newly delineated recessive disorder

Clin Genet. 1977 Jun;11(6):424-30. doi: 10.1111/j.1399-0004.1977.tb01339.x.

Abstract

A previously undescribed genetic syndrome with multiple congenital malformations is described. The major components include: 1) horseshoe kidneys; 2) severe mental retardation; 3) characteristic facies; and 4) heart defects. Evidence for considering it to be an autosomal recessive syndrome is also discussed.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adolescent
  • Face / abnormalities*
  • Female
  • Genes, Recessive*
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Kidney / abnormalities*
  • Male
  • Pedigree
  • Syndrome