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:
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
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spelling doaj-ab4a932fb18a4761b844b5477342b4cf2021-09-02T18:48:08ZengAmaltea Medical Publishing HouseRomanian Journal of Pediatrics1454-03982069-61752015-03-01641343710.37897/RJP.2015.1.7SMITH-LEMLI-OPITZ SYNDROME. CASE REPORTSorin Ioan Iurian0Livia Ognean1Han Brunner2Leo Kluijtmans3Petr Jira4Dana Fintina5Bogdan Ionut Mehedintu6”Lucian Blaga” University, Sibiu; Pediatric Clinic Hospital, SibiuNeonatology Clinic, Emergency Clinical Hospital, SibiuMedical Genetics Department, Radboud University, Nijmegen, The NederlandsTranslational Metabolic Laboratory, Nijmegen, The NederlandsJreoen Bosch Hospital, Pediatric Department, The NederlandsPediatric Clinic Hospital, SibiuPediatric Clinic Hospital, SibiuSmith-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.https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2015-Nr.1/EN/RJP_2015_1_EN_Art-07.pdfsmith-lemli-opitz syndromeinfanthypocholesterolemia
collection DOAJ
language English
format Article
sources DOAJ
author Sorin Ioan Iurian
Livia Ognean
Han Brunner
Leo Kluijtmans
Petr Jira
Dana Fintina
Bogdan Ionut Mehedintu
spellingShingle Sorin Ioan Iurian
Livia Ognean
Han Brunner
Leo Kluijtmans
Petr Jira
Dana Fintina
Bogdan Ionut Mehedintu
SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT
Romanian Journal of Pediatrics
smith-lemli-opitz syndrome
infant
hypocholesterolemia
author_facet Sorin Ioan Iurian
Livia Ognean
Han Brunner
Leo Kluijtmans
Petr Jira
Dana Fintina
Bogdan Ionut Mehedintu
author_sort Sorin Ioan Iurian
title SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT
title_short SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT
title_full SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT
title_fullStr SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT
title_full_unstemmed SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT
title_sort smith-lemli-opitz syndrome. case report
publisher Amaltea Medical Publishing House
series Romanian Journal of Pediatrics
issn 1454-0398
2069-6175
publishDate 2015-03-01
description 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.
topic smith-lemli-opitz syndrome
infant
hypocholesterolemia
url 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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AT hanbrunner smithlemliopitzsyndromecasereport
AT leokluijtmans smithlemliopitzsyndromecasereport
AT petrjira smithlemliopitzsyndromecasereport
AT danafintina smithlemliopitzsyndromecasereport
AT bogdanionutmehedintu smithlemliopitzsyndromecasereport
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