| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
|
| País: |
Brazil
|
| Título: |
Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients
|
| Autores: |
Scalco,Fernanda B.
Otto,Paulo A.
Brunetti,Iguatemy L.
Cruzes,Vania M.
Moretti-Ferreira,Danilo
|
| Data: |
2006-01-01
|
| Ano: |
2006
|
| Palavras-chave: |
Smith-Lemli-Opitz syndrome
Cholesterol metabolism
7-dehydrocholesterol
|
| Resumo: |
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).
|
| Tipo: |
Info:eu-repo/semantics/article
|
| Idioma: |
Inglês
|
| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000300003
|
| Editor: |
Sociedade Brasileira de Genética
|
| Relação: |
10.1590/S1415-47572006000300003
|
| Formato: |
text/html
|
| Fonte: |
Genetics and Molecular Biology v.29 n.3 2006
|
| Direitos: |
info:eu-repo/semantics/openAccess
|
