Bardet- Biedl Syndrome: case series and literature revision

Abstract The Bardet-Biedl Syndrome is a rare autosomal recessive disorder with clinical and genetic heterogeneity. Its main characteristics are pigmentary retinopathy, obesity, polydactyly, learning disabilities, various degrees of intellectual disability, renal anomalies and hypogonadism. The objective of this study is to report two cases of the Bardet-Biedl syndrome in patients diagnosed at the Benjamin Constant Institute and to perform a literary review of the syndrome. Review of medical records and bibliographic research were made from the PubMed, SciELO, MEDLINE and LILACS databases. Currently, treatment for the Bardet-Biedl Syndrome does not exist, but early diagnosis is important to guide the child through a regular assessment of blood pressure, weight, renal imaging studies, eye exams and psychological support.

摘要 巴德-毕德氏综合征（Bardet-Biedl Syndrome）是一种罕见的常染色体隐性遗传病，兼具临床与遗传异质性。其主要临床表现为色素性视网膜病变、肥胖症、多指（趾）症、学习障碍、程度不一的智力障碍、肾脏异常以及性腺功能减退症。本研究旨在报告两例于本杰明·康斯坦特研究所确诊的巴德-毕德氏综合征病例，并对该综合征进行文献综述。研究通过PubMed、SciELO、MEDLINE及LILACS数据库开展病历回顾与文献调研。目前针对巴德-毕德氏综合征尚无特效治疗手段，但早期诊断对指导患儿定期开展血压监测、体重评估、肾脏影像学检查、眼科检查及心理支持干预具有重要意义。