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SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal-recessive inherited disease characterized by multiple anomalies secondary to cholesterol synthesis impairment. The authors present diagnosis peculiarities and limitation of treatment options in a 5-weeks old infant with ambiguous genitalia.
Keywords: Smith-Lemli-Opitz syndrome, infant, hypocholesterolemia