BARDET-BIEDL SYNDROME – CASE PRESENTATION

BARDET-BIEDL SYNDROME – CASE PRESENTATION

Bardet-Biedl syndrome (autosomal-recessive inheritance) is characterized by obesity, retinal dystrophy, polydactyly and mental retardation. The authors emphasize the necessary steps in order to establish the diagnosis for an infant with overweight, polydactyly and hypogenitalism.

Bibliographic Details
Main Authors: Sorin Ioan Iurian, Heleen Arts, Han Brunner, Dana Fintina
Format: Article
Language:English
Published: Amaltea Medical Publishing House 2015-09-01
Series:Romanian Journal of Pediatrics
Subjects:
bardet-biedl syndrome
obesity (overweight)
polydactyly
Online Access:https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2015-Nr.3/EN/RJP_2015_3_EN_Art-11.pdf
id doaj-91ea14028cd0433aa53b2786ce1c4e92
record_format Article
spelling doaj-91ea14028cd0433aa53b2786ce1c4e922021-09-02T19:32:19ZengAmaltea Medical Publishing HouseRomanian Journal of Pediatrics1454-03982069-61752015-09-0164328929210.37897/RJP.2015.3.11BARDET-BIEDL SYNDROME – CASE PRESENTATIONSorin Ioan Iurian0Heleen Arts1Han Brunner2Dana Fintina3“Lucian Blaga” University, Sibiu; Pediatric Clinic Hospital, SibiuGenetic Department, Radboud University, Nijmegen, The Nederlands Genetic Department, Radboud University, Nijmegen, The Nederlands Pediatric Clinic Hospital, SibiuBardet-Biedl syndrome (autosomal-recessive inheritance) is characterized by obesity, retinal dystrophy, polydactyly and mental retardation. The authors emphasize the necessary steps in order to establish the diagnosis for an infant with overweight, polydactyly and hypogenitalism.https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2015-Nr.3/EN/RJP_2015_3_EN_Art-11.pdfbardet-biedl syndromeobesity (overweight)polydactyly
collection DOAJ
language English
format Article
sources DOAJ
author Sorin Ioan Iurian
Heleen Arts
Han Brunner
Dana Fintina
spellingShingle Sorin Ioan Iurian
Heleen Arts
Han Brunner
Dana Fintina
BARDET-BIEDL SYNDROME – CASE PRESENTATION
Romanian Journal of Pediatrics
bardet-biedl syndrome
obesity (overweight)
polydactyly
author_facet Sorin Ioan Iurian
Heleen Arts
Han Brunner
Dana Fintina
author_sort Sorin Ioan Iurian
title BARDET-BIEDL SYNDROME – CASE PRESENTATION
title_short BARDET-BIEDL SYNDROME – CASE PRESENTATION
title_full BARDET-BIEDL SYNDROME – CASE PRESENTATION
title_fullStr BARDET-BIEDL SYNDROME – CASE PRESENTATION
title_full_unstemmed BARDET-BIEDL SYNDROME – CASE PRESENTATION
title_sort bardet-biedl syndrome – case presentation
publisher Amaltea Medical Publishing House
series Romanian Journal of Pediatrics
issn 1454-0398
2069-6175
publishDate 2015-09-01
description Bardet-Biedl syndrome (autosomal-recessive inheritance) is characterized by obesity, retinal dystrophy, polydactyly and mental retardation. The authors emphasize the necessary steps in order to establish the diagnosis for an infant with overweight, polydactyly and hypogenitalism.
topic bardet-biedl syndrome
obesity (overweight)
polydactyly
url https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2015-Nr.3/EN/RJP_2015_3_EN_Art-11.pdf
work_keys_str_mv AT sorinioaniurian bardetbiedlsyndromecasepresentation
AT heleenarts bardetbiedlsyndromecasepresentation
AT hanbrunner bardetbiedlsyndromecasepresentation
AT danafintina bardetbiedlsyndromecasepresentation
_version_ 1721170950233260032

Similar Items