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Eur J Med Genet. 2014 Aug;57(8):359-68. doi: 10.1016/j.ejmg.2014.06.002. Epub 2014 Jun 13.

Infantile hydrocephalus: a review of epidemiology, classification and causes.

Author information

1
Department of Neurology, University of Washington, Seattle, WA, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. Electronic address: hmtully@uw.edu.
2
Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.

Abstract

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.

KEYWORDS:

Aqueductal stenosis; Genetics; Hydrocephalus; Intraventricular hemorrhage; L1CAM

PMID:
24932902
PMCID:
PMC4334358
DOI:
10.1016/j.ejmg.2014.06.002
[Indexed for MEDLINE]
Free PMC Article

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