| Congenital hydrocephalus in clinical practice: A genetic diagnostic approach. | |
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MedLine Citation:
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PMID: 21839187 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of congenital hydrocephalus. A retrospective survey was performed including patients with primary congenital hydrocephalus referred to the Department of Clinical Genetics between 1985 and 2010 by perinatologists, (pediatric) neurologists or pediatricians. Patients with hydrocephalus secondary to other pathology were excluded from this survey. We classified patients with primary congenital hydrocephalus into two main groups: non-syndromic hydrocephalus (NSH) and syndromic hydrocephalus (SH). Seventy-five individuals met the inclusion criteria, comprising 36% (27/75) NSH and 64% (48/75) SH. In 11% (8/75) hydrocephalus was familial. The cause of hydrocephalus was unknown in 81% (61/75), including all patients with NSH. The male-female ratio in this subgroup was 2.6:1, indicating an X-linked factor other than the L1CAM gene. In the group of SH patients, 29% (14/48) had a known cause of hydrocephalus including chromosomal abnormalities, L1 syndrome, Marden-Walker syndrome, Walker-Warburg syndrome and hemifacial microsomia. We performed this survey in order to evaluate current knowledge on the genetic etiology of primary congenital hydrocephalus and to identify new candidate genes or regulatory pathways for congenital hydrocephalus. Recommendations were made concerning the evaluation and genetic workup of patients with primary congenital hydrocephalus. We conclude that further molecular and functional analysis is needed to identify new genetic forms of congenital hydrocephalus. |
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Authors:
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J M A Verhagen; C T R M Schrander-Stumpel; I P C Krapels; C E M de Die-Smulders; F H M van Lint; C Willekes; J W Weber; A W D Gavilanes; M V E Macville; A P A Stegmann; J J M Engelen; J Bakker; Y J Vos; S G M Frints |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-7-30 |
Journal Detail:
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Title: European journal of medical genetics Volume: - ISSN: 1878-0849 ISO Abbreviation: - Publication Date: 2011 Jul |
Date Detail:
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Created Date: 2011-8-15 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011. Published by Elsevier Masson SAS. |
Affiliation:
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Department of Clinical Genetics, Erasmus Medical Center Rotterdam, The Netherlands; GROW, School for Oncology and Developmental Biology, Maastricht University, The Netherlands. |
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