|
KMID : 0363220090470040487
|
|
Korean Journal of Dermatology
2009 Volume.47 No. 4 p.487 ~ p.490
|
|
|
A Case of Oculo-auriculo-vertebral (OAV) Syndrome
|
|
Song Margaret
Seo Sang-Hee
Jung Do-Sang
Ko Hyun-Chang
Kim Moon-Bum
Kwon Kyung-Sool
|
|
|
Abstract
|
|
|
|
We present a patient with various features of oculo-auriculo-vertebral syndrome (OAVS), also known as Goldenhar’s syndrome. In general, multiple accessory tragi in a linear distribution from the preauricular skin to the mandible or to the lateral neck suggest a diagnosis of OAVS. However, in most cases, an accessory tragus is an isolated developmental defect without an associated congenital syndrome. A female infant presented with a solitary, skin colored, sessile papule on the right lower cheek, microtia, and ear deformity since birth. A biopsy specimen showed numerous irregularly spaced hair follicles with a prominent connective tissue framework in the subcutaneous fat, but without central cartilage. Multiple congenital anomalies, including ocular lipodermoid, sensorineural hearing loss, and vertebral deformity, were found on further evaluation.
|
|
|
KEYWORD
|
|
|
Accessory tragus, Goldenhar syndrome, Oculo-auriculo-vertebral spectrum
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
  
|
|