It is important that clinical geneticists, where possible, categorise rare autosomal recessive disorders into discrete entities. This has become especially important for those who manage syndrome databases so that individual case reports can be correctly added to the existing literature or be entere
Invited editorial comment: The nosology of the Smith-Lemli-Opitz syndrome
β Scribed by Penchaszadeh, Victor B. ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1987
- Tongue
- English
- Weight
- 199 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
β¦ Synopsis
A number of recent reports have called attention to a group of patients who share the main clinical findings of the Smith-Lemli-Opitz syndrome (SLOS), albeit with an unusually severe degree of expression. This has included severe or even complete failure of genital development in males, multiple visceral anomalies and death early in life. [
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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
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
## Abstract The urinary bile acids from four patients with SmithβLemliβOpitz (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
We wish to contribute to the current debate about the Smith-Lemli-Opitz syndrome (SLO) and enliven it by evidence one of us (D.D.) presented in a paper at the 2nd Manchester Birth Defects Conference in October 1986 following a suggestion made by John Graham in a personal communication that the sever