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DC Field | Value | Language |
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dc.contributor.author | Scalco, Fernanda B. | - |
dc.contributor.author | Otto, Paulo A. | - |
dc.contributor.author | Brunetti, Iguatemy Lourenço | - |
dc.contributor.author | Cruzes, Vania M. | - |
dc.contributor.author | Moretti-Ferreira, Danilo | - |
dc.date.accessioned | 2014-05-20T13:23:49Z | - |
dc.date.available | 2014-05-20T13:23:49Z | - |
dc.date.issued | 2006-01-01 | - |
dc.identifier | http://dx.doi.org/10.1590/S1415-47572006000300003 | - |
dc.identifier.citation | Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 29, n. 3, p. 429-436, 2006. | - |
dc.identifier.issn | 1415-4757 | - |
dc.identifier.uri | http://hdl.handle.net/11449/7245 | - |
dc.description.abstract | Smith-Lemli-Opitz syndrome (SLOS) or RSH syndrome comprises multiple congenital anomalies and mental retardation. The underlying defect is a deficiency in the activity of delta7-sterol reductase, which decreases cholesterol and increases 7-dehydrocholesterol (7-DHC) levels. Our aim was to identify and evaluate the frequency of SLOS manifestations in a group of Brazilian patients. Based on our own data and those reported previously, we present a simple method that allows the estimation of probabilities favoring the diagnosis of SLOS. We evaluated 30 patients clinically and determined their plasma levels of cholesterol and 7-dehydrocholesterol. In 11 patients, the diagnosis was confirmed by ultraviolet spectrophotometry (UV). of 19 patients with normal laboratory results, 17 showed a high probability favoring the diagnosis of SLOS. The most significant signs and symptoms observed in over 2/3 of the biochemically confirmed cases were mental retardation (10/11), delayed neuropsychomotor development (10/11), syndactyly of 2nd/3rd toes (10/11), and craniofacial anomalies including microcephaly (11/11), incompletely rotated ears (8/11), palpebral ptosis (10/11), anteverted nostrils (10/11), and micrognathia (9/11). Genital anomalies were found in all male patients (6/6). | en |
dc.description.sponsorship | Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) | - |
dc.format.extent | 429-436 | - |
dc.language.iso | eng | - |
dc.publisher | Sociedade Brasileira de Genética | - |
dc.source | SciELO | - |
dc.subject | Smith-Lemli-Opitz syndrome | en |
dc.subject | cholesterol metabolism | en |
dc.subject | 7-dehydrocholesterol | en |
dc.title | Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients | en |
dc.type | outro | - |
dc.contributor.institution | Universidade Estadual Paulista (UNESP) | - |
dc.contributor.institution | Universidade de São Paulo (USP) | - |
dc.description.affiliation | Universidade Estadual Paulista Serviço de Aconselhamento Genético | - |
dc.description.affiliation | Universidade de São Paulo Instituto de Biociências Departamento de Genética e Biologia Evolutiva | - |
dc.description.affiliation | Universidade Estadual Paulista Universidade Estadual Paulista Departamento de Análises Clínicas | - |
dc.description.affiliationUnesp | Universidade Estadual Paulista Serviço de Aconselhamento Genético | - |
dc.description.affiliationUnesp | Universidade Estadual Paulista Universidade Estadual Paulista Departamento de Análises Clínicas | - |
dc.identifier.doi | 10.1590/S1415-47572006000300003 | - |
dc.identifier.scielo | S1415-47572006000300003 | - |
dc.rights.accessRights | Acesso aberto | - |
dc.identifier.file | S1415-47572006000300003.pdf | - |
dc.relation.ispartof | Genetics and Molecular Biology | - |
dc.identifier.orcid | 0000-0002-9256-7623 | pt |
Appears in Collections: | Artigos, TCCs, Teses e Dissertações da Unesp |
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