Autosomal recessive syndrome of sacral and conotruncal developmental field defects (Kousseff syndrome)

Am J Med Genet. 1985 Oct;22(2):357-60. doi: 10.1002/ajmg.1320220220.


Kousseff [1984] reported on three sibs with an autosomal recessive syndrome of sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck. We report on a fourth case and discuss the findings from a developmental field perspective and the ramifications for genetic counseling.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Genes, Recessive
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Meningomyelocele / genetics*
  • Sacrum
  • Syndrome