The behavior phenotype of Smith-Lemli-Opitz syndrome (SLOS) was studied by assessing behavior, social, and communication abilities, sensory hyperreactivity, and the deficits associated with autistic disorder. Fifty-six SLOS subjects, age 0.3 to 32.3 years, were evaluated by multiple age-dependent qu
Discordant phenotype and sterol biochemistry in Smith–Lemli–Opitz syndrome
✍ Scribed by Grace Koo; Sandra K. Conley; Christopher A. Wassif; Forbes D. Porter
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 135 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
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Smith-Lemli-Opitz syndrome (SLOS, RSH/SLO syndrome, MIM 270400) is an autosomal recessive multiple malformation/mental retardation syndrome initially described by Smith et al. [1964] that is due to a defect in cholesterol biosynthesis. The behavioral phenotype of Smith-Lemli-Opitz syndrome demonstra
The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome comprising microcephaly, developmental and growth retardation, characteristic facial anomalies, midline cleft palate, and genital and limb anomalies. Recently, biochemical evidence of an inborn error of cho
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