Title: Goldenhar Syndrome – A Case Report
Authors: Dr Sanjay Joshi, Dr Prashant Bhadane, Dr Yogesh Salunkhe, Dr Shrikant Patil
DOI: http://dx.doi.org/10.18535/jmscr/v3i8.63
DIDS : 08.2015-XXXXXXX
Goldenhar syndrome (GHS) is also known as ‘Oculo-auriculo-vertebral syndrome’(OAV).[1]Itis a spectrum of rare disorder which is apparent at birth. Dating back in 1950s it was initially comprised of malformations of ears and ocular abnormalities, only in 1963, the vertebral abnormalities were included as a sign of this syndrome. It is characterised by combination of anomalies like limbaldermoid, epibulbar cysts, auricular appendices, malformation of ears and hypoplasia of bones of mandible. GHS is a rare developmental disorder affecting the first and second branchial arches. Its also known as facio-auriculo-vertebral anomaly. The aetiology remains unclear in this syndrome. We present a case of 8 month male child with classical features with variable presentation. Keywords – Goldenhar syndrome, oculo-auriculo-vertebral syndrome. Synonym –Hemifacial Microsomia,[1] FAV spectrum, OAV spectrum, 1. Gorlin RJ, Pindberg JJ, Cohen MM. Oculo-auriculo-vertebral dysplasia In: Syndromes of the Head and Neck. A Blackiston Division. McGraw-Hill: New York, London and Johannesberg; 1964. p546-52 2. Goldenhar M. Associationmalformatives de l’oeil et de l’oreill, en particulier le syndrome dermoideepibulbaire-appendic-es- auriculares-fistula aurisconge-nita et ses relations avec la dysostosemandi-bulofaciale. J Genet Hum 1952;1:243-82. 3. Grabb WC. The first and second branchial archsyndrome.PlastReconstrSurg1965;36:485-508. 4. Collins ET. Case with symmetrical congenital notches in the outer part of each lid and defective development of malar bones. Trans OphthalmolSoc UK 1900; 20:190. 5. Das A, Ray B, Das D, et al A case of Goldenhar-Gorlin syndrome with unusual association of hypoplastic thumb. Indian J Ophthalmol. 2008 Mar-Apr;56(2):150-2. 6. Mutanabbi M, Rahman MA, Mamun AA, et al Goldenhar syndrome - a case report. Mymensingh Med J. 2014 Jul;23(3):586-9.Abstract
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