Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients
Genet. mol. biol
;
29(3): 429-436, 2006. ilus
Article
in English
| LILACS
| ID: lil-450274
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).
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Cholesterol
/
Smith-Lemli-Opitz Syndrome
/
Dehydrocholesterols
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Genet. mol. biol
Journal subject:
Genetics
Year:
2006
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade Estadual Paulista/BR
/
Universidade de São Paulo/BR
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