A case of Branchio-Oto syndrome with a congenital salivary gland fistula
نویسندگان
چکیده
منابع مشابه
Branchio-oto-renal syndrome.
Branchio-oto-renal syndrome, a phenotype consisting of hearing loss, auricular malformations, branchial arch remnants, and renal anomalies is now recognized as one of the more common forms of autosomal dominant syndromic hearing impairment. Three loci known to be associated with the BOR phenotype have been identified and two genes that act in a regulatory network have been cloned, EYA1 and SIX1...
متن کاملBranchio-oto-renal syndrome.
Branchio-oto-renal syndrome (Melnick-Fraser syndrome) is a rare autosomal dominant disorder characterized by syndromic association of branchial cysts or fistulae along with external, middle & inner ear malformations and renal anomalies. Authors are reporting a 19 year male patient, who presented with profound deafness & low set "lop-ear" with right sided preauricular pit. USG abdomen revealed a...
متن کاملAnesthetic management of a patient with branchio-oto-renal syndrome
Branchio-oto-renal syndrome (BOR) is a rare autosomal dominant disorder. The features include branchial cysts, hearing loss, ear malformation, preauricular pits, retrognathia, congenital heart disease, and renal abnormalities. However, anesthetic management of these patients has seldom been reported. We report a case in which general anesthesia was performed for dental treatment in a patient wi...
متن کاملCONGENITAL BRONCHO-ESOPHAGEAL FISTULA: A CASE REPORT
Congenital broncho-esophageal fistula (BEF) is a rare anomaly usually detected in adulthood. In one of the latest reviews of this anomaly, no more than 150 cases were found in the world literature. We report our experience with a 49 year old male patient referring with a classic presentation of chronic cough and choking episodes upon liquid intake. Broncho-esophageal fistula was confirmed b...
متن کاملCase report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the coexistence of branchial cysts or fistulae, external ear malformation with pre-auricular pits or tags, hearing impairment and renal malformations. However, the presence of the main features varies in affected families. Here, we present a 16-year-old boy admitted to the Department of Nephrology at the Pediat...
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ژورنال
عنوان ژورنال: JOURNAL OF JAPAN SOCIETY FOR HEAD AND NECK SURGERY
سال: 2013
ISSN: 1349-581X,1884-474X
DOI: 10.5106/jjshns.23.109