Goldenhar Syndrome in a Young Girl

Abstract

Goldenhar or oculo-auriculo-vertebral (OAV) syndrome is a congenital disorder that is usually apparent at birth. Sometimes, its diagnosis can be delayed and it is first diagnosed in adolescents or adults. We present a case of an 18-year girl who presented with chief complaint of multiple carious teeth and was found to have abnormal facies. On examination, it was found that the patient had asymmetry of face due to hypoplastic maxilla and mandible on the left side. Patient also had presence of ocular dermoid in the left eye, pre-auricular tags, scoliotic posture, ankyloglossia and fissured tongue, which were in accordance with OAV syndrome. This case report unveils the need for an early diagnosis and prompt treatment of the anomalies found in this syndrome.

Manifestaciones bucales del espectro oculo-aurículo-vertebral (Síndrome de Goldenhar): Una revisión narrativa

“…Además de sinostosis, hemivertebras, cifoescoliosis vertebral fusionada y costillas faltantes. 9,22,25 Las anomalías cervicales son de primordial relevancia en aquellos pacientes sometidos a cirugía, por las complicaciones al momento de realizar laringoscopia directa y para intubación endotraqueal. 26 Por su parte, la escoliosis suele ser progresiva por lo que requiere de tratamiento oportuno.…”

“…41,52 Lo anterior debe ser primordial en la planificación del tratamiento estomatológico, debido a que una condición bucal precaria puede afectar el tratamiento del equipo multidisciplinar por lo que las visitas periódi-cas deberán incluir aplicación tópica de fluoruro con énfasis en la prevención. 25,41,48 Dentro de las principales anomalías bucales reportadas, el labio y paladar hendido son las manifestaciones más comunes de este síndrome, con requerimientos quirúrgicos a edades tempranas. Sin embargo, se ha reportado que solo el 14% de los pacientes presentan labio y paladar hendido.…”

Multicorrection Goldenhar syndrome (facio-auriculo-vertebral dysplasia): a rare follow up case of 12 years old female

“…Its pathogenesis is caused by the MSX homeobox genes. Its incidence lies between 1: 3500 and 1: 5600, wherein the male to female ratio is 3: 2 [ 1 , 4 ]. In 85% of GHS cases, the unilateral face is affected, the right side being commonly involved [ 2 , 3 ].…”