A Case of Branchio-Oto-Renal Syndrome
Journal of the Korean Pediatric Society
; : 983-987, 2000.
Article
in Korean
| WPRIM (Western Pacific)
| ID: wpr-113882
Responsible library:
WPRO
ABSTRACT
Branchio-oto-renal(BOR) syndrome is an autosomal dominant disorder. The pathophysiology of this syndrome is unknown. BOR syndrome has a wide range of clinical manifestations affecting the branchial, auditory and renal systerns. Associated abnormalities of the face, lacrimal duct, palate and ureters have also been described. However, the major clinical findings associated and/ or ear pits, and renal anormaly. We experienced a case of a 15-day-old rnale newborn who had visited our hospital for deformed auricle and atresia of external auditory canal found at birth. We report this case with a review of the related literatures.
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Palate
/
Ureter
/
Branchial Region
/
Branchio-Oto-Renal Syndrome
/
Parturition
/
Ear
/
Ear Canal
Limits:
Humans
/
Infant, Newborn
Language:
Korean
Journal:
Journal of the Korean Pediatric Society
Year:
2000
Document type:
Article