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Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome

✍ Scribed by Lowry, R. Brian ;Yong, Siu-Li ;Opitz, John M.


Publisher
John Wiley and Sons
Year
1980
Tongue
English
Weight
460 KB
Volume
5
Category
Article
ISSN
0148-7299

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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

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The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is a relatively common, autosomal recessive malformation syndrome comprising distinctive facial, limb and genital anomalies, and mental retardation. Most patients with a clinical diagnosis of RSH/SLOS have a defect of cholesterol biosynthesis at the leve

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## Abstract The urinary bile acids from four patients with Smith‐Lemli‐Opitz (SLO) syndrome were analyzed by continuous flow fast atom bombardment mass spectrometry. Two types of abnormalities were noted: (1) a deficiency of normal bile acids (cholenoates) and (2) the presence of abnormal species p

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## Abstract The Smith‐Lemli‐Opitz syndrome (SLOS), or RSH syndrome, is a well‐characterized multiple congenital anomalies/mental retardation syndrome. The phenotype has been redefined to include mildly affected individuals with minor anomalies and developmental delay, and severe malformations with