Sindrome de goldenhar pdf free

The main sign and symptoms are facial asymmetry one side of the face is different from the other, a partially formed ear microtia or totally absent ear anotia, noncancerous benign growths of the eye ocular dermoid. Arial times new roman wingdings feixe foto do microsoft photo editor 3. 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. Goldenhar syndrome is a congenital condition that is associated with abnormalities of the head and the bones of the spinal column. Goldenhar syndrome gs is a rare abnormality affecting the craniofacial region having extra cranial manifestations as well. The diagnosis of goldenhar syndrome is made by physical and xray examination and laboratory tests 5 5. Msx homeobox genes play a central role in pathogenesis. May 22, 2017 goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear, and spine. Common clinical manifestations include limbal dermoids, preauricular skin tags and strabismus. Goldenhars syndrome is a rare condition described initially in the early 1950s. Goldenhar syndrome a warning for the otorhinolaryngologist. Besides involving malformation in the first and second branchial archs with the predominant in males. It is associated with anomalous development of the first branchial arch and second branchial arch.

The first observation of the anomaly was reported by arlt f in 1881. 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. Podemos tener distintos rasgos, es decir, somos parecidos pero todos diferentes. The goldenhars syndrome is a rare congenital anomaly. Goldenhar disease is a condition that is present at birth and mainly affects. Goldenhar syndrome, also known as oculoauriculovertebral spectrum oavs, goldenhargorlin syndrome or facioauriculovertebral dysplasia, is a complex congenital anomaly characterized by abnormalities of the ears, eyes and vertebrae. The abnormalities of the head can include anomalies of the eyes. Dr maurice goldenhar in 1952 gave the name goldenhar syndrome. Also malnutrition, tobacco, andherbicides can result in congenital malformations as they are able to produce free radicals which may break the dna 1. Microtia appears to represent its less complex manifestation, however, several facial and systemic abnormalities may also be observed 9. Goldenhar syndrome has also been observed in the children of diabetic mothers 14, and those exposed to cocaine, retinoic acid, thalidomide, tamoxifenprimido neteratological agents 10,15. Pdf the authors present a case of goldenhar syndrome, with its.

Goldenhar syndrome, also known as oculoauicular dysplasia or oav, is a congenital birth defect which involves deformities of the face. Tumores dermicos epibulbares, apendices pre auriculares y malformaciones. Pdf craniofacial and dental characteristics of goldenhar. Jan 01, 2011 goldenhar syndrome gs is a rare abnormality affecting the craniofacial region having extra cranial manifestations as well. Goldenhar syndrome ghs is a complex syndrome characterized by relation of mandibular hypoplasia, abnormality of the ear, ocular dermoid and vertebral disorders and hemi facial macrosomia.