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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.

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Autors principals: Sorin Ioan Iurian, Livia Ognean, Han Brunner, Leo Kluijtmans, Petr Jira, Dana Fintina, Bogdan Ionut Mehedintu
Format: Artigo
Idioma:Inglês
Publicat: Amaltea Medical Publishing House 2015-03-01
Col·lecció:Romanian Journal of Pediatrics
Matèries:
smith-lemli-opitz syndrome
infant
hypocholesterolemia
Accés en línia:https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2015-Nr.1/EN/RJP_2015_1_EN_Art-07.pdf
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