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 , pediatrics , medicine , 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.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom