Open AccessBARDET-BIEDL SYNDROME – CASE PRESENTATION
Author(s) -
S I Iurian,
Heleen H. Arts,
Han G. Brunner,
Dana Fîntînă
Publication year - 2015
Publication title -
romanian journal of pediatrics
Language(s) - English
Resource type - Journals
eISSN - 2069-6175
pISSN - 1454-0398
DOI - 10.37897/rjp.2015.3.11
Subject(s) - bardet–biedl syndrome , polydactyly , autosomal recessive inheritance , pediatrics , ciliopathy , medicine , presentation (obstetrics) , genetics , biology , phenotype , surgery , anatomy , gene
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 hypo-genitalism.