Open AccessRare cause of pediatric obesity: Bardet - Biedl Syndrome
Author(s) -
Mitul B Kalathia,
Yogesh N Parikh,
Parin N Parmar,
Shyamal S Verma
Publication year - 2014
Publication title -
medical journal of dr. d y patil university/medical journal of dr. d.y. patil university
Language(s) - English
Resource type - Journals
eISSN - 2278-7119
pISSN - 0975-2870
DOI - 10.4103/0975-2870.126341
Subject(s) - polydactyly , syndactyly , micropenis , bardet–biedl syndrome , short stature , medicine , pediatrics , ciliopathy , obesity , growth hormone deficiency , endocrinology , hormone , hypospadias , growth hormone , surgery , anatomy , genetics , biology , gene , phenotype
Bardet - Biedl syndrome (BBS) is a rare autosomal recessive disorder, characterized by central obesity, retinal pigmentation, polydactyly, mental retardation, hypogonadism, and renal dysfunction. Other features may include deafness, diabetes mellitus, genitourinary abnormalities, short stature, hormonal abnormalities, developmental defects, and speech problems. We report a case of BBS who presented with night blindness, marked central obesity, polydactyly, syndactyly, hypogonadism, micropenis, and behavioral problems, along with a brief review of the literature