Year: 2006
Type: article
Study design: Observational Study
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).
Source: Genetics and Molecular Biology
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $700
Funders: Coordenação de Aperfeiçoamento de Pessoal de Nível Superior, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Faculdade de Medicina de São José do Rio Preto, Universidade Estadual de Campinas, Fundação Oswaldo Cruz, Universidade Federal de Minas Gerais, Universidade Estadual Paulista, Faculdade de Ciências Médicas, Universidade Estadual de Campinas
OpenAlex ID: W2139747358