Goldenhar Syndrome: Case Report.
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Date
2015-01
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Abstract
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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Keywords
Autosomal dominant, Goldenhar syndrome, Hypothyroidism,, Isolated, Preauricular tag
Citation
Patil Nandini A, Patil Anil B. Goldenhar Syndrome: Case Report. IJSS Journal of Surgery 2015 Jan-Feb; 1(1): 18-20.