Infantile hydrocephalus: A review of epidemiology, classification and causes

Hannah M. Tully, William B. Dobyns

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158 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

Bibliographical note

Funding Information:
The authors would like to thank the children with hydrocephalus and their families, who have taught us more about this condition than any other source. Research reported in this publication was supported by the National Center for Advancing Translational Sciences of the National Institutes of Health under award KL2TR000421 (to HMT), and by the National Institute of Neurological Disorders and Stroke of the National Institutes of Health under award numbers T32NS051171 (to HMT), R01NS046616 , R0NS058721 and R01NS050375 (to WBD). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.


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


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