Please use this identifier to cite or link to this item:
|Type:||Artigo de periódico|
|Title:||Importance Of The Clinical Genetics Evaluation On Hydrocephalus [importância Da Avaliação Genético-clínica Na Hidrocefalia]|
Pontes Cavalcanti D.
Silva Lopes V.L.G.
|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.|
|Appears in Collections:||Unicamp - Artigos e Outros Documentos|
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.