Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/70062
Type: Artigo de periódico
Title: Importance of the clinical genetics evaluation on hydrocephalus
Author: Wey-Vieira, M
Cavalcanti, DP
Lopes, VLGS
Abstract: The aim of this study was to characterize the possibility of genetic etiology in a group of individuals with congenital hydrocephalus in which the etiology was indeterminate and to confirm that earlier diagnosed. The casuistry was composed by 16 individuals with congenital hydrocephalus. Investigation protocol included anamnesis, familial investigation, physical examination, computerized tomography or magnetic resonance image of head, vertebral column X-ray, karyotype and dysmorphological study. Results were analyzed in two groups. In Group I (3M:9F) was composed by hydrocephalus associated with unspecific signs. Group II (7 males) had findings of epectrum of L1 disease. Genetic counseling could be offered in 11 cases. These results demonstrate the great etiological heterogeneity of congenital hydrocephalus and reinforce the importance of dysmphology evaluation as an important complementary investigation.
Subject: hydrocephalus
dysmorphology
geneticounseling
Country: Brasil
Editor: Assoc Arquivos De Neuro- Psiquiatria
Rights: aberto
Identifier DOI: 10.1590/S0004-282X2004000300019
Date Issue: 2004
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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