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Síndrome de Bardet-Biedl: série de caso e revisão da literatura / Bardet- Biedl Syndrome: case series and literature revision
Toledo, Nathalia Bufolin; Maimone, Juliana Borges Risolia; Marcos, Alléxya Affonso Antunes; Leite, Eduardo Henrique Morizot; Couto Junior, Abelardo de Souza.
  • Toledo, Nathalia Bufolin; Instituto Benjamin Constant. Rio de Janeiro. BR
  • Maimone, Juliana Borges Risolia; Instituto Benjamin Constant. Rio de Janeiro. BR
  • Marcos, Alléxya Affonso Antunes; Instituto Benjamin Constant. Rio de Janeiro. BR
  • Leite, Eduardo Henrique Morizot; Instituto Benjamin Constant. Rio de Janeiro. BR
  • Couto Junior, Abelardo de Souza; Instituto Benjamin Constant. Rio de Janeiro. BR
Rev. bras. oftalmol ; 77(6): 360-362, nov.-dez. 2018. graf
Article in Portuguese | LILACS | ID: biblio-985313
RESUMO
Resumo A Síndrome de Bardet-Biedl é uma desordem autossômica recessiva rara, com heterogeneidade clínica e genética. As principais características são retinopatia pigmentar, obesidade, polidactilia, dificuldades de aprendizado, diversos graus de deficiência intelectual, anomalias renais e hipogonadismo. O objetivo desse trabalho é relatar dois casos de síndrome de Bardet-Biedl em pacientes diagnosticados no Instituto Benjamin Constant e fazer uma revisão literária da síndrome. Revisão de prontuário e pesquisa bibliográfica nas bases de dados do PubMed, SciELO, MEDLINE e LILACS. Atualmente não há tratamento para a Síndrome de Bardet-Biedl, mas o diagnóstico precoce é importante para orientar a gestão da criança através de uma avaliação regular da pressão arterial, peso, estudos de imagiologia renais, exames oftalmológicos e apoio psicológico.
ABSTRACT
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.
Subject(s)


Full text: Available Index: LILACS (Americas) Main subject: Retinitis Pigmentosa / Bardet-Biedl Syndrome / Retinal Dystrophies Type of study: Diagnostic study / Screening study Limits: Adolescent / Adult / Female / Humans Language: Portuguese Journal: Rev. bras. oftalmol Journal subject: Ophthalmology Year: 2018 Type: Article Affiliation country: Brazil Institution/Affiliation country: Instituto Benjamin Constant/BR

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Full text: Available Index: LILACS (Americas) Main subject: Retinitis Pigmentosa / Bardet-Biedl Syndrome / Retinal Dystrophies Type of study: Diagnostic study / Screening study Limits: Adolescent / Adult / Female / Humans Language: Portuguese Journal: Rev. bras. oftalmol Journal subject: Ophthalmology Year: 2018 Type: Article Affiliation country: Brazil Institution/Affiliation country: Instituto Benjamin Constant/BR