Importance of the clinical genetics evaluation on hydrocephalus

dc.creatorWey-Vieira, M
dc.creatorCavalcanti, DP
dc.creatorLopes, VLGS
dc.date2004
dc.dateJUN
dc.date2014-11-13T15:58:58Z
dc.date2015-11-26T17:10:26Z
dc.date2014-11-13T15:58:58Z
dc.date2015-11-26T17:10:26Z
dc.date.accessioned2018-03-28T23:59:01Z
dc.date.available2018-03-28T23:59:01Z
dc.identifierArquivos De Neuro-psiquiatria. Assoc Arquivos De Neuro- Psiquiatria, v. 62, n. 2B, n. 480, n. 486, 2004.
dc.identifier0004-282X
dc.identifierWOS:000222517600019
dc.identifier10.1590/S0004-282X2004000300019
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/70062
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/70062
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/70062
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1280861
dc.descriptionThe 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.
dc.description62
dc.description2B
dc.description480
dc.description486
dc.languagept
dc.publisherAssoc Arquivos De Neuro- Psiquiatria
dc.publisherSao Paulo Sp
dc.publisherBrasil
dc.relationArquivos De Neuro-psiquiatria
dc.relationArq. Neuro-Psiquiatr.
dc.rightsaberto
dc.sourceWeb of Science
dc.subjecthydrocephalus
dc.subjectdysmorphology
dc.subjectgeneticounseling
dc.subjectX-linked Hydrocephalus
dc.subjectUrinary-tract-infections
dc.subjectNeural-tube Defects
dc.subjectMasa Syndrome
dc.subjectCongenital Hydrocephalus
dc.subjectMental-retardation
dc.subjectMaternal Hyperthermia
dc.subjectVariable Expression
dc.subjectVacterl Association
dc.subjectInheritance
dc.titleImportance of the clinical genetics evaluation on hydrocephalus
dc.typeArtículos de revistas


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