1. [Untitled]
- Author
-
Uberto Pozzoli, F. Polenghi, Renato Borgatti, P. Nicolini, E. Spaggiari, and Roberto Salati
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,Pediatrics ,medicine.medical_specialty ,Developmental age ,Polydactyly ,business.industry ,Pigmentary Retinopathy ,Audiology ,medicine.disease ,Ophthalmology ,Bardet–Biedl syndrome ,Retinitis pigmentosa ,medicine ,business - Abstract
Bardet-Biedl syndrome (BBS) is ahereditary autosomal-recessive disorder,characterized by mental retardation, obesity,pigmentary retinopathy,polydactyly and, only in males, hypogenitalism.Even though genetic studies haverevealed five different forms of BBS correlatedto distinct loci on differentchromosomes, a diagnosis of BBS is stillprimarily based on clinical data. Thepresent study discusses the evolutionof clinical ophthalmological andelectrophysiological characteristics ofBBS patients in developmental age.
- Published
- 1999