Goldenhar's syndrome: case report

Author:

Pinheiro Antônio Luiz Barbosa1,Araújo Luciana Cavalcanti1,Oliveira Suely Baptista1,Sampaio Maria Carmeli Correia2,Freitas André Carlos1

Affiliation:

1. Federal University of Bahia, Brazil

2. Federal University of Paraiba, Brazil

Abstract

Goldenhar's syndrome is a rare condition described initially in the early 1950's. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformation of the ears. In 1963, Gorlin suggested the name oculo-auriculo-vertebral (OAV) dysplasia for this condition and also included vertebral anomalies as signs of the syndrome. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. This work reports a case of Goldenhar's syndrome in an 11-year-old female, who presented all classical signs of this rare condition

Publisher

FapUNIFESP (SciELO)

Subject

General Dentistry

Reference17 articles.

1. Síndrome de Goldenhar - A propósito de um caso;Altamar Rios J;An Otorrinolaringol Iber Am,1998

2. Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia;Regenbogen L;Clin Gen,1982

3. Síndromes comuns com anormalidades morfológicas: Princípios e Prática de Pediatria;Oski FA,1990

4. Severe manifestations of oculoauriculovertebral spectrum in a cocaine-exposed infant;Lessick M;J Med Gen,1991

5. Trisomy 9 mosaicism: Another etiology for the manifestations of Goldenhar Syndrome;Wilson GN;J Craniofac Gen Develop Biol,1983

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