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
Description
Summary: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.
ISSN:1454-0398
2069-6175

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