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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 1, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT

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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

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