Abstract

OSORIO MARINO, Humberto; AVILA RIOPEDRE, Francisco; SARDUY, Carlos M  and  AREVALOS, Carlos E. Bardet-Biedl's síndrome: A case report. AMC [online]. 2006, vol.10, n.2, pp.127-134. ISSN 1025-0255.

Clinical and laboratory findings of a patient with Bardet-Biedl`s syndrome are presented. The first symptoms appeared during adolescence which admits a mode of recessive autonomic heritage. In the physical examination axial polydactylia of hands and feet, retinistis pigmentosa, trunk obesity, mental retardation and hypogonadismo were found. Also, diabetes mellitus non - insuline dependent, arterial hypertension and terminal chronic renal failure were detected. This pathology of early occurrence in life may be cause of blindness in adolescence and chronic renal failure y the adultness.

Keywords : BARDET- BIEDL SYNDROME [etiology]; RETINITIS PIGMENTOSA; POYDACTYLY; MENTAL RETARDATION; OBESITY; ADOLESCENCE.

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