Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review
AUTOR(ES)
Lindau, Tâmara Andrade, Cardoso, Ana Cláudia Vieira, Rossi, Natalia Freitas, Giacheti, Célia Maria
FONTE
Int. Arch. Otorhinolaryngol.
DATA DE PUBLICAÇÃO
2014-01
RESUMO
Introduction Branchio-oto-renal (BOR) syndrome is an autosomal-dominant genetic condition with high penetrance and variable expressivity, with an estimated prevalence of 1 in 40,000. Approximately 40% of the patients with the syndrome have mutations in the gene EYA1, located at chromosomal region 8q13.3, and 5% have mutations in the gene SIX5 in chromosome region 19q13. The phenotype of this syndrome is characterized by preauricular fistulas; structural malformations of the external, middle, and inner ears; branchial fistulas; renal disorders; cleft palate; and variable type and degree of hearing loss. Aim Hearing loss is part of BOR syndrome phenotype. The aim of this study was to present a literature review on the anatomical aspects and audiological profile of BOR syndrome. Data Synthesis Thirty-four studies were selected for analysis. Some aspects when specifying the phenotype of BOR syndrome are controversial, especially those issues related to the audiological profile in which there was variability on auditory standard, hearing loss progression, and type and degree of the hearing loss. Mixed loss was the most common type of hearing loss among the studies; however, there was no consensus among studies regarding the degree of the hearing loss.
Documentos Relacionados
- Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome
- Biochemical and Functional Characterization of Six SIX1 Branchio-oto-renal Syndrome Mutations*
- SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes
- Vasculitis and renal disease in nail-patella syndrome: case report and literature review.
- Morbihan syndrome: a case report and literature review