Trisomy 13 syndrome and neural tube defects

Am J Med Genet. 1990 Aug;36(4):513-6. doi: 10.1002/ajmg.1320360429.

Abstract

Abnormalities of the CNS, such as arhinencephaly or holoprosencephaly, are common findings in trisomy 13 syndrome. However, neural tube defects (NTDs) are rarely reported. A review of 267 patients in the literature on reported CNS developmental defects in trisomy 13 syndrome showed only 6 patients with lumbosacral NTDs. No case of encephalocele or anencephaly was found. We report on 3 patients with spina bifida from the records of 34 necropsies of karyotyped trisomy 13 syndrome, which were found among 403,710 births.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, Pair 13*
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Neural Tube Defects / complications
  • Neural Tube Defects / genetics*
  • Spina Bifida Occulta / complications
  • Spina Bifida Occulta / genetics
  • Syndrome
  • Trisomy*