Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients

Genetics and Molecular Biology

Fernanda B. Scalco²  Paulo A. Otto¹  Iguatemy L. Brunetti¹  Vania M. Cruzes¹  Danilo Moretti-ferreira² 

[1] ,Universidade Estadual Paulista Serviço de Aconselhamento Genético Botucatu SP ,Brazil

关键词: Smith-Lemli-Opitz syndrome;    cholesterol metabolism;    7-dehydrocholesterol;   

DOI  :  10.1590/S1415-47572006000300003

来源: SciELO

【 摘 要 】

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).

【 授权许可】

CC BY   
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