SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT

Abstract

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