Infantile hydrocephalus: A review of epidemiology, classification and causes

Hannah M. Tully, William B. Dobyns

Research output: Contribution to journalArticlepeer-review

108 Scopus citations


Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research.

Original languageEnglish (US)
Pages (from-to)359-368
Number of pages10
JournalEuropean Journal of Medical Genetics
Issue number8
StatePublished - Aug 2014
Externally publishedYes


  • Aqueductal stenosis
  • Genetics
  • Hydrocephalus
  • Intraventricular hemorrhage
  • L1CAM

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