Open AccessSMITH-LEMLI-OPITZ SYNDROME. CASE REPORT
Author(s) -
S I Iurian,
Maria Livia Ognean,
Han G. Brunner,
Leo A. J. Kluijtmans,
Petr Jira,
Dana Fîntînă,
Bogdan Mehedintu
Publication year - 2015
Publication title -
romanian journal of pediatrics
Language(s) - English
Resource type - Journals
eISSN - 2069-6175
pISSN - 1454-0398
DOI - 10.37897/rjp.2015.1.7
Subject(s) - smith–lemli–opitz syndrome , ambiguous genitalia , medicine , pediatrics , biology , biochemistry , 7 dehydrocholesterol reductase , reductase , enzyme
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.