Goldenhar Syndrome – A Literature Review
نویسندگان
چکیده
Golden har syndrome is a hereditary condition which is characterized by preauricular appendages, fistulas, and epibulbar dermoids. It not only involves the facial structures, but also includes renal, genitourinary, cardiac, and skeletal anomalies. The aetiology of the syndrome is not fully understood however many hypothesis have been proposed and described. The incidence varies from 1 in 3,500 to 1 in 5,600 live births. Males are more commonly affected by the syndrome than females, the ratio being 3:2. It can be both unilateral and bilateral, however involvement of the right ear is more common. The diagnosis should be based on the clinical aspect of the syndrome which should further be associated with radiological findings and systemic conditions. For diagnosisto be confirmed the subject should at least have microtia and preauricular, or auricular abnormalities. Treatment of deformities requiresmultiple procedures performed by a multidisciplinaryteam of doctors, and a long-term regular follow-up is also important tomonitor the growth and development of the patient.
منابع مشابه
Goldenhar syndrome: a case report with review of literature.
A case of Goldenhar Syndrome, in an adult male, with the typical triad of auricular appendages, epibulbar dermoid and vertebral anomalies is presented. The relevent literature is review. The differential diagnosis of this Syndrome from a few similar syndromes is stressed.
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Goldenhar syndrome (oculo-auriculo-vertebral spectrum) is a rare congenital anomaly of unclear etiology and characterized by craniofacial anomalies such as hemifacial microsomia, auricular, ocular and vertebral anomalies. In many cases, this syndrome goes unnoticed due to a lack of knowledge about its features and because of its associated wide range of overlapping anomalies. Herewith, we prese...
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Oculo-auriculovertebral dysplasia (Goldenhar) is a congenital syndrome. Its phenotype differs from craniofacial anomalies to cardiac, vertebral or central nervous system defects. This syndrome is rare and its etiology is not apparent yet. Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations with its incidences 15% to 25%. Herein we present ...
متن کاملGoldenhar Syndrome: Review of Literature and A Case Report
Goldenhar syndrome is a rare congenital anomaly involving the first and second branchial arches. It has been reported with the incidence between 1:3500 and 1:5600, with a male: female ratio of 3:2. The exact etiology is unknown. Most of the cases have been sporadic. This paper presents a rare case of Goldenhar syndrome in a 6 year old boy reported to us for the fabrication of removable ear pros...
متن کاملGoldenhar Syndrome in a pediatric patient: a case report and review of literature Síndrome de Goldenhar em um paciente infantil: relato de caso e revisão da literatura
Goldenhar Syndrome is a rare, generally sporadic condition, whose physical manifestations include asymmetric incomplete facial development, epibulbar dermoids, auricular malformations e auricular appendices, vertebral anomalies, central nervous system disturbances, ocular irregularities and visceral abnormalities. Its etiology is not fully understood, with its incidence ranging from 1:3500 to 1...
متن کاملGoldenhar syndrome: clinical features with orofacial emphasis
OBJECTIVES Goldenhar syndrome (GS) is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects. This paper describes GS features with special emphasis on oral characteristics. MATERIAL AND METHODS The clinical features of 6 patients with GS aged 3 months to 12 years are described, and a...
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تاریخ انتشار 2015