[Bardet-Biedl syndrome].
Bardet-Biedl syndrome is a rare disease characterized by pigmentary retinopathy, dysmorphic extremities, obesity, renal abnormalities and hypogonadism only in men. The authors present a typical case and made a brief commentary about the disease's cardinal manifestations.
Siopa
Luís
L
Serviço de Medicina 2, Hospital Distrital de Santarém, Santarém.
Grego
Manuela
M
Cossa
Joel
J
Pinguinha
Alberto
A
D000328:Adult; D020788:Bardet-Biedl Syndrome / Q000503:physiopathology*; D006801:Humans; D008297:Male