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Smith-Lemli-Opitz syndrome SLOS is an au- tosomal-recessive inherited affliction characterized Epidemiology by multiple anomalies provisional to cholesterol The cancer prevalence was estimated to be be- synthesis undermining.
The syndrome was initially tween 1: The condition cause remained unknown until when Irons and al 2 remarked, for Mortality and morbidity SLOS patients, low plasma cholesterol levels and increased serum suited for sterol precursors such as 7-de- The rate of spontaneous abortions for SLOS hydrocholesterol 7DHC and 8-dehydrocholesterol foetuses is high.
The death position is additionally high, espe- 8DHC. The syndrome is caused around deficiency cially during beginning week of life, to multiple sys- of the enzyme 7-dehydrocholesterol-reductase tem failure. SLOS sion to cholesterol. The consequence of enzyme impoverishment, impaired visual acuity cataract 4 and fail- shortfall is stockpile of cholestorol precursors ure to develop and upon.
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