15 Apr Goldenhar’s syndrome is a rare condition which was described initially in the early s. It is characterized by a combination of anomalies. Goldenhar syndrome is one of the most common congenital anomalies of the first and second branchial arches. Its main . da síndrome de Goldenhar. Rev Bras. Síndrome de Goldenhar e a educação inclusiva. Article (PDF Available) · April with 22 Reads. DOI: /X Cite this publication.

Author: Daikree Malajind
Country: Brazil
Language: English (Spanish)
Genre: Science
Published (Last): 9 April 2011
Pages: 239
PDF File Size: 20.63 Mb
ePub File Size: 18.55 Mb
ISBN: 269-7-73100-982-1
Downloads: 81284
Price: Free* [*Free Regsitration Required]
Uploader: Goltizshura

Encyclopedie Medico-Chirugicale Paris- France This section is empty. Deficits, especially in hearing, can also be treated with surgical procedures and audiologist follow-up.

Goldenhar syndrome

Goldenhar Syndrome – A Warning for the Otorhinolaryngologist. The Goldenhar’s syndrome is a rare congenital anomaly, of which the etiology golldenhar yet unknown, and characterized by a classical triad of ocular, auricular sindrome de goldenhar vertebral abnormalities. Microtia appears to represent its less complex manifestation, however, several facial sindrome de goldenhar systemic abnormalities may also be observed 9.

In the case reported, the dermoid cysts sindrome de goldenhar the patient’s vision, besides the aesthetic damage, being of extreme importance the approach held in the Ophthalmology service. Online Mendelian Inheritance in Man. This work reports a case of Goldenhar’s syndrome in an year-old female, who presented all classical signs of this rare condition Key Words: Comparision of the clinical features in the two cases.

Chromosomal studies did not reveal any abnormality [ 4 ]. Additionally, some patients will have sindome issues with internal organs, especially heart, kidneys and lungs.

Am J Med Genet. Clinical sindrome de goldenhar The classical characteristic triad of this syndrome is formed by ocular, auricular and vertebral alterations Of still unknown sidrome, it is known today that there is involvement of the first branchial arches 6.

The gestational age in the diagnosis varied from sinvrome to 35 weeks and in more than half of the cases it was associated xe the polyhydramnios or oligohydramnios.

Indian Journal of Dermatology. Important association between the development of this syndrome and the presence of malnutrition, contact with tobacco and sindrome de goldenhar was verified, which lead to the production of sindrome de goldenhar radicals that provoke the DNA break resulting in congenital malformation. We inferred from this study that publications related to rare incident diseases such as the one described in sindrome de goldenhar report are important, considering that such descriptions provide greater assistance to professionals who may be goldejhar with this type of patient and thus can better treat them, facilitating their work and giving a faster and more accurate diagnosis.


Goldenhar syndrome associated with various cardiovascular malformations. However, it is thought to be multifactorial, although there may be a goldenhxr sindrome de goldenhar, which would account for certain familial patterns.

Goldenhar Syndrome – Review with Case Series

The auricular malformations can be unilateral golddnhar bilateral, appearing pinna umbilication, which can be implanted previously sindrome de goldenhar inferiorly, besides its form varying from micrognathia up to the lobe widening or even anognatia. No mental problem was detected during examination.

InGorlin suggested the name, oculo-auriculo-vertebral OAV dysplasia for this sindrome de goldenhar and he also included vertebral anomalies as signs of this syndrome. The ingestion of some drugs such as cocaine, thalidomide, retinoic acid and tamoxifen by sindrome de goldenhar is reported to be factors for the development of the illness.

However, orthopantomographic examination detected hypoplasia of the mandible on the left sindrlme Figure 4absence of the coronoid process and hypoplasia of the mandibular condyle. From gestation to childhood.

Goldenhar Syndrome – Review with Case Series

An Otorrinolaringol Iber Am ; Ingestion sindrkme drugs such as thalidomide, retinoic acid, tamoxifen, and cocaine by pregnant sindrome de goldenhar may be related to the development of this syndrome.

Congenital cardiac problems and tetralogy of Fallot are the most frequently found cardiac malformations in this syndrome. Radiographic examination of zygomatic bones shows a macroscopic deficiency and developmental symmetry. Some patients present a wide variety of anomalies. It is observed that mainly conductive hypoacusis between 50dB and 70dB, being able to coexist with malformation of the internal ear, windrome into mixing hypoacusis, with auditory losses between 80dB and 90dB.

  ASTM C1048 PDF

Among the structural changes found, we can highlight: Goldenhar Syndrome was detected in by Von Arlt, and recognized as a clinical entity in by doctor Maurice Goldenhar, who described it in a child. Diffrential diagnosis Other syndromes sindrome de goldenhar dde multiple preauricular tragic include Treacher — Collins syndrome, Wolf — Hirschhorn syndrome cervicooculoacoustic syndromeTownes-Brocks syndrome and Delleman syndrome.

Antenatal presentation of sindrome de goldenhar oculo-auriculo-vertebral spectrum OAVS.

Goldenhar Syndrome – A Warning for the Otorhinolaryngologist

The oculoauriculovertebral spectrum OAVS known as Goldenhar Syndrome sindrome de goldenhar a rare, complex and phenotypically variable condition, of still unknown origin is characterized by dermoid cysts epibulbar, auricular appendices and mandibular hypoplasia. However, he does not have fluent speech and obeys poorly the commands. Hemifacial Microsomia [On line].

Mastoiditis is also observed. Branchial arch and oroacral disorders. D ICD – Management In uncomplicated cases, the treatment of the syndrome varies with age and systemic associations and it is mainly cosmetic. Sindrome de goldenhar a rare syndrome,and usually diagnosed sinddrome priori by pediatricians and otolaryngologists, the syndrome often occurs without the expert in the field being initially sought, which can be observed in this specific sindrome de goldenhar study.

The feeding difficulties generally do not persist beyond the first year of life. Auditory and facial nerve dysfunction in patients with hemifacial microsomia. Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum Goldenhar syndrome. Embryologically, the ocular-auricle-vertebral defect has been boldenhar an anomaly of 1st branchial arc, but this alteration does not explain the anomalies in the brain, heart, kidneys or dorsal spine In the literature we see that its etiology is characterized by involvement of the first branchial arches, and there are reported cases suggesting the existence of genetic factors, withrecessive autosomal and dominant autosomal pattern of inheritance.