Spina bifida and hypospadias: a non random association or an X-linked recessive condition?

Am J Med Genet. 1994 Aug 1;52(1):5-8. doi: 10.1002/ajmg.1320520103.

Abstract

Here we describe a statistically significant association between hypospadias and spina bifida. This association was identified through the Spanish Collaborative Study of Congenital Malformations (ECEMC), where the observed number of cases was greater (P << 0.0005) than expected just by chance among males. We also detected a pair of concordant twins who had monochorial monoamniotic placenta. To the best of our knowledge, this is the first report of this combination of defects, consequently it must be confirmed whether this statistic association is an entity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / epidemiology
  • Abnormalities, Multiple / genetics*
  • Case-Control Studies
  • Female
  • Genes, Recessive
  • Genetic Linkage*
  • Gestational Age
  • Humans
  • Hypospadias / epidemiology
  • Hypospadias / genetics*
  • Infant, Newborn
  • Male
  • Sex Distribution
  • Spain / epidemiology
  • Spinal Dysraphism / epidemiology
  • Spinal Dysraphism / genetics*
  • X Chromosome*