Tetra-amelia, lung hypo-/aplasia, cleft lip-palate, and heart defect: a new syndrome?

Am J Med Genet. 1994 May 15;51(1):77-80. doi: 10.1002/ajmg.1320510116.

Abstract

We report on a family with two sons affected with tetra-amelia, cleft lip-palate, bilateral agenesis of lungs, and heart defects. These two cases support the previous suggestions that this complex entity may indeed represent a new syndrome. However, the mode of inheritance is still not clarified.

MeSH terms

  • Abnormalities, Multiple*
  • Cleft Lip
  • Cleft Palate*
  • Ectromelia*
  • Fetus / abnormalities
  • Heart Defects, Congenital*
  • Humans
  • Lung / abnormalities*
  • Male
  • Syndrome