A Case of Oculo-auriculo-vertebral (OAV) Syndrome.
- Author:
Margaret SONG
1
;
Sang Hee SEO
;
Do Sang JUNG
;
Hyun Chang KO
;
Moon Bum KIM
;
Kyung Sool KWON
Author Information
1. Department of Dermatology, School of Medicine, Pusan National University, Busan, Korea. drds75@medimail.co.kr
- Publication Type:Case Report
- Keywords:
Accessory tragus;
Goldenhar syndrome;
Oculo-auriculo-vertebral spectrum
- MeSH:
Biopsy;
Cartilage;
Cheek;
Congenital Abnormalities;
Connective Tissue;
Ear;
Female;
Goldenhar Syndrome;
Hair Follicle;
Hearing Loss, Sensorineural;
Humans;
Infant;
Mandible;
Neck;
Parturition;
Skin;
Subcutaneous Fat
- From:Korean Journal of Dermatology
2009;47(4):487-490
- CountryRepublic of Korea
- Language:Korean
-
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.
