A Case of Oculo-auriculo-vertebral (OAV) Syndrome / 대한피부과학회지
Korean Journal of Dermatology
;
: 487-490, 2009.
Artigo
em Coreano
| WPRIM
| ID: wpr-124176
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pele
/
Anormalidades Congênitas
/
Biópsia
/
Cartilagem
/
Bochecha
/
Tecido Conjuntivo
/
Folículo Piloso
/
Parto
/
Orelha
/
Gordura Subcutânea
Limite:
Feminino
/
Humanos
/
Lactente
Idioma:
Coreano
Revista:
Korean Journal of Dermatology
Ano de publicação:
2009
Tipo de documento:
Artigo
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