Do you know this syndrome?
Goldenhar syndrome is a sporadic or inherited genetic syndrome characterized by limbal dermoids, preauricular skin tags and mandibular hypoplasia. Vertebral abnormalities may occur. The incidence of this syndrome ranges from 1 in 5,600 to 1 in >20,000 live births. It consists of abnormalities involving the first and second branchial arches. The etiology of the syndrome is heterogeneous. Diagnosis should be based principally on clinical aspects, which should be associated with the patient's systemic conditions and radiologic findings. Treatment depends on the patient's age and systemic manifestations, with a multidisciplinary approach often being required.
Santa Casa de Misericordia de Belo Horizonte, MG, Brazil.
Luiz Maurício Costa
LM
Almeida
Michelle dos Santos
Mdos S
Diniz
Lorena dos Santos
Ldos S
Diniz
D002648:Child; D005260:Female; D006053:Goldenhar Syndrome / Q000175:diagnosis*; D006801:Humans; D010641:Phenotype