Journal Basic Info
- Impact Factor: 1.809**
- H-Index: 6
- ISSN: 2474-1655
- DOI: 10.25107/2474-1655
Major Scope
- Endoscopy
- Infectious Disease
- Dermatology and Cosmetology
- Lung Cancer
- Sleep Medicine and Disorders
- Family Medicine and Public Health
- Otolaryngology
- Medical Radiography
Abstract
Citation: Ann Clin Case Rep. 2020;5(1):1801.DOI: 10.25107/2474-1655.1801
Branchiootic Syndrome in a Male Kid - A Rare Case Presentation with Clinical and Imaging Report
Praveena Raman
Department of Oral Medicine and Radiology, Sathyabama Dental College, India
*Correspondance to: Praveena Raman
PDF Full Text Case Report | Open Access
Abstract:
Branchio-Oto-Renal (BOR) syndrome is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of the pinnae, the presence of branchial arch remnants, and various renal abnormalities. BOR syndrome is caused by mutations in EYA1 and SIX1 which are critical to organogenesis and are expressed together in developing otic, branchial and renal tissue. Branchio-Otic (BO) syndrome comprises branchial fistulas and preauricular pits, but lacks renal anomalies. We present a rare case report of Branchiootic syndrome in a 5 year old kid.
Keywords:
Branchio-otic syndrome; Branchio-oto-renal syndrome; EYA1 gene; SIX1 gene; Chromosomal abnormality
Cite the Article:
Raman P. Branchiootic Syndrome in a Male Kid - A Rare Case Presentation with Clinical and Imaging Report. Ann Clin Case Rep. 2020; 5: 1801.
