Agenesis of the corpus callosum in California 1983-2003: a population-based study

Am J Med Genet A. 2008 Oct 1;146A(19):2495-500. doi: 10.1002/ajmg.a.32418.


The objective of this study was to characterize the prevalence, demographic risk factors, and malformations associated with agenesis and hypoplasia of the corpus callosum diagnosed in infancy. Using a large population-based registry of birth defects, we ascertained 630 cases of agenesis (ACC) and hypoplasia (HCC) of the corpus callosum diagnosed in the first year of life among 3.4 million live births from 1983 to 2003. Infants with destructive lesions or specific complex central nervous system (CNS) malformations (neural tube defects, lissencephaly, and holoprosencephaly) were excluded. Multivariable Poisson regression analysis was used to examine demographic risk factors. The combined prevalence of ACC and HCC was 1.8 per 10,000 live births. Fifty-two percent of cases were male. Infants with ACC had an almost fourfold higher prevalence among infants born prematurely when compared with children born > or =37 weeks gestation (RR 3.7, 95% CI 2.5-5.3). After adjusting for paternal age, advanced maternal age >/=40 years was associated with ACC in infants with a chromosomal disorder (ACC RR 5.9; 95% CI 1.8-19.3, HCC RR 3.5; 95% CI 0.9-14.1). Paternal age was not significantly associated with ACC after adjusting for maternal age. Callosal anomalies were often seen in the context of a chromosomal abnormality (17.3%) and with accompanying somatic (musculoskeletal 33.5% and cardiac 27.6%) and CNS malformations (49.5%). Callosal anomalies form a clinically significant and relatively frequent group of malformations of the CNS that are associated with increased risk of premature birth, are more common with advanced maternal age and are frequently part of a complex, multisystem disorder.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Agenesis of Corpus Callosum*
  • Birth Certificates
  • California / epidemiology
  • Cohort Studies
  • Congenital Abnormalities / diagnosis
  • Congenital Abnormalities / epidemiology*
  • Congenital Abnormalities / genetics*
  • Corpus Callosum / diagnostic imaging
  • Corpus Callosum / pathology
  • Female
  • Humans
  • Infant, Newborn
  • Infant, Premature
  • Live Birth / epidemiology
  • Male
  • Maternal Age
  • Pregnancy
  • Prevalence
  • Radiography
  • Registries
  • Retrospective Studies
  • Risk Factors