Goldenhar syndrome, also known as oculoauriculovertebral dysplasia, is a disorder with craniofacial morphogenesis. Anesthetic management for surgery of esophagus atresia in a. Goldenhar syndrome also known as oculoauriculovertebral syndrome was first reported by dr maurice goldenhar in. Goldenhar syndrome support network society genetic and. Goldenhar syndrome associated with genital tract abnormality bmj. Goldenhar syndrome consists of the triad of craniofacial micro somia, occular dermoid cysts, and spinal anomalies. It is associated with anomalous development of the first branchial arch and second branchial arch. Pdf goldenhar syndrome oculoauriculovertebral spectrum oavs is a rare congenital condition characterized.
A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. Goldenhar syndrome, also known as oculoauicular dysplasia or oav, is a congenital birth defect which involves deformities of the face. Goldenhar syndrome is a congenital condition that is associated with abnormalities of the head and the bones of the spinal column. Goldenhar disease genetic and rare diseases information. Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear, and spine. Severe kyphoscoliosis in a patient with goldenhar syndrome. If you have problems viewing pdf files, download the latest version. Goldenhar syndrome gs is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects. Laura gonzalez calvete a, alfonso ramos perez a, sara lozano losada a, raquel salazar mendez b y calixto lopez quintana c. Goldenhar disease genetic and rare diseases information center.
Common clinical manifestations include limbal dermoids, preauricular skin tags and strabismus. Goldenhar syndrome, a term that is often used synonymously with oculoauriculovertebral oav spectrum, is a rare. Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip and mandible on usually one side of the body. Ii abstract the goldenhar syndrome has been considered for many years to be a polymalformation result of the spectrum. The abnormalities of the head can include anomalies of the eyes. Goldenhar syndrome is a rare congenital defect characterized by incomplete development of. Goldenhar syndrome includes a wide spectrum of congenital anomalies involving structures arising from.
This paper describes gs features with special emphasis on oral characteristics. Goldenhar syndrome, also known as oculoauriculovertebral spectrum oavs, goldenhar gorlin syndrome or facioauriculovertebral dysplasia, is a complex congenital anomaly characterized by abnormalities of the ears, eyes and vertebrae. Goldenhar syndrome is the second most frequent craniofacial malformation. As alteracoes oculares tratadas com exerese dos cistos dermoides ou lipodermoides. Goldenhar syndrome, a term synonymously used with oculo auriculovertebral1 spectrum is a rare disorder that is apparent at birth. Diagnostico diferencial sindrome branquiootorenal disostosis mandibulofacial disostosis maxilofacial disostosis acrofacial. Nelle tabelle seguenti sono state raccolte le anomalie congenite presenti nella sindrome di goldenhar ed in particolare quelle presenti. Spinal anomalies in goldenhar syndrome sage journals. Touliatou v, fryssira h, mavrou a, kanavakis e, kitsioutzeli s 2006.