Goldenhar syndrome with unusual features

Mehta, B.; Nayak, Chitra; Savant, Shankar; Amladi, Sangeeta

doi:10.4103/0378-6323.41374

Cited by 35 publications

(37 citation statements)

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“…The exact aetiology is not known. However, it is possible that the abnormal embryonic vascular supply, distrupted mesodermal migration or some other factor leads to defective formation of the branchial arches and vertebral systems [3]. Kallen et al, reported that most of the cases were sporadic.…”

Section: Discussionmentioning

confidence: 99%

“…Social workers can provide support and guidance to the children and their families, such as accessing community resources, making decisions about surgeries and adjusting for the facial asymmetry. Prognosis of this disease is good in otherwise uncomplicated cases without any systemic associations [3].…”

Section: Etiologymentioning

confidence: 95%

“…Treacher Collin syndrome is associated with maxillary and mandibular hypoplasia, but it is not associated with ocular and aural anomalies [3].…”

Section: Diffrential Diagnosismentioning

confidence: 99%

“…Maternal diabetes, rubella and influenza have also been suggested as aetiologic factors [3,5,6]. Heavy alcohol consumption during pregnancy is also one of the aetiologies of this and palate can be done, followed by an orthodontic correction after jaw growth completion.…”

Section: Etiologymentioning

confidence: 99%

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Goldenhar Syndrome - Review with Case Series

Ashokan

Sreenivasan

Saraswathy

2014

JCDR

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Section: Discussionmentioning

confidence: 99%

Section: Etiologymentioning

confidence: 95%

“…Treacher Collin syndrome is associated with maxillary and mandibular hypoplasia, but it is not associated with ocular and aural anomalies [3].…”

Section: Diffrential Diagnosismentioning

confidence: 99%

Section: Etiologymentioning

confidence: 99%

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Goldenhar Syndrome - Review with Case Series

Ashokan

Sreenivasan

Saraswathy

2014

JCDR

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“…It is more common among males, with male:female ratio of 3:2. 1 It involves abnormalities in the first and second branchial arches. The etiology of the syndrome is heterogeneous.…”

Section: Introductionmentioning

confidence: 99%

Goldenhar Syndrome: Case Report

2015

IJSS j of Surgery

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Goldenhar syndrome or fascio-auriculo-vertebral dysplasia or oculo-auriculo-vertebral syndrome is a sporadic or autosomal dominant inherited genetic rare syndrome characterized by mandibular hypoplasia, facial asymmetry, low set ear or atresia of ear canal, preauricular skin tags, hemi vertebra in cervical region, epibulbar dermoid, coloboma of upper eyelid, limb dermoids, cardiac abnormalities and other systemic abnormalities includes facial involvement, predisposing to the right side or there may be a more complex phenotypic abnormality with the skeletal, cardiac, renal and pulmonary systems. Central nervous system involvement are common with these patients, particularly there are higher chances with ophthalmologic anomalies. 50% of the patients with Goldenhar would have either conductive and/or sensorineural hearing loss. This case report describes a typical 40-year-old female patient who presented to the hospital with auricular abnormality and diminished hearing and was found to have the fascioauriculo-vertebral dysplasia spectrum of this syndrome and hypothyroidism. Diagnosis was based principally on clinical aspects. Radiology, laboratory fi ndings, otorhinolaryngologic evaluations were important in reaching a defi nitive diagnosis. Management depends on the patient's age and systemic clinical manifestations, with a multidisciplinary approach often being required.

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