Differential diagnosis:
Alström syndrome , which is distinguished from BBS by the
absence of polydactyly and preserved cognitive function.
McKusick-Kaufman syndrome , which is recognised from BBS by the
absence of retinal disease, obesity, developmental disabilities and
increased incidence of congenital heart disease.
Senior-Løken syndrome , which is marked from BBS by the absence
of obesity, polydactyly, hypogonadism, and genitourinary malformations.
Laurence-Moon syndrome , which is distinct from BBS by presence
of spasticity and absence of polydactyly
Our patient diagnosis was Bardet Bidel syndrome as she fulfilled all sex
items of primary features (obesity, retinitis pigmentosa, postaxial
polydactyly, renal abnormalities, learning disabilities and
genitourinary malformations) in addition to two secondary features
(developmental delay and left ventricular hypertrophy).