SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT

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.

Bibliographic Details
Main Authors: Sorin Ioan Iurian, Livia Ognean, Han Brunner, Leo Kluijtmans, Petr Jira, Dana Fintina, Bogdan Ionut Mehedintu
Format: Article
Language:English
Published: Amaltea Medical Publishing House 2015-03-01
Series:Romanian Journal of Pediatrics
Subjects:
smith-lemli-opitz syndrome
infant
hypocholesterolemia
Online Access:https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2015-Nr.1/EN/RJP_2015_1_EN_Art-07.pdf

Internet

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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