BARDET-BIEDL SYNDROME
DOI:
https://doi.org/10.55302/MJA259194sKeywords:
Bardet-Biedl syndromee, genetic disease, postaxial polydactylyAbstract
Bardet-Biedl syndrome (BBS) is a genetic and multisystem disease that affects the genitourinary tract, locomotory system, causes eye anomalies, cognitive disorders and characteristic truncal obesity. It is caused by mutations in certain genes, namely: BBS1 to BBS21 gene. The approach to this disease is multidisciplinary.
Material and Methods: We present a 3-years-old female child who was referred to the Clinic for Pediatric Surgery due to supernumerary toes on both feet. This is postaxial polydactyly. Intrauterine lobulated kidney structure was observed. The child had problems with her peers and avoids socializing with them. The following examinations were performed: cardiological, ophthalmological and genetic. Genetic examinations confirmed the BBS syndrome.
Results: The patient was operated at the clinic for pediatric surgery, the operative and postoperative period were without complications.
Conclusion: BBS is a rare autosomal disease that requires timely detection and appropriate multidisciplinary treatment. This allows complications to be reduced and the child to be included in everyday activities.
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