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dc.contributor.authorScalco, Fernanda B. [UNESP]
dc.contributor.authorOtto, Paulo A.
dc.contributor.authorBrunetti, Iguatemy Lourenço [UNESP]
dc.contributor.authorCruzes, Vania M. [UNESP]
dc.contributor.authorMoretti-Ferreira, Danilo [UNESP]
dc.identifier.citationGenetics and Molecular Biology. Sociedade Brasileira de Genética, v. 29, n. 3, p. 429-436, 2006.
dc.description.abstractSmith-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.sponsorshipCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.publisherSociedade Brasileira de Genética
dc.relation.ispartofGenetics and Molecular Biology
dc.subjectSmith-Lemli-Opitz syndromeen
dc.subjectcholesterol metabolismen
dc.titleSmith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patientsen
dc.contributor.institutionUniversidade Estadual Paulista (UNESP)
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.description.affiliationUniversidade Estadual Paulista Serviço de Aconselhamento Genético
dc.description.affiliationUniversidade de São Paulo Instituto de Biociências Departamento de Genética e Biologia Evolutiva
dc.description.affiliationUniversidade Estadual Paulista Universidade Estadual Paulista Departamento de Análises Clínicas
dc.description.affiliationUnespUniversidade Estadual Paulista Serviço de Aconselhamento Genético
dc.description.affiliationUnespUniversidade Estadual Paulista Universidade Estadual Paulista Departamento de Análises Clínicas
dc.rights.accessRightsAcesso aberto
unesp.campusUniversidade Estadual Paulista (UNESP), Faculdade de Ciências Farmacêuticas, Araraquarapt
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