DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20173172

Goldenhar syndrome: a rare entity

Tariq Harris, Mohammed Abdul Bashith, Manas M. Shanbhag, Moideen Faheem

Abstract


Goldenhar syndrome was first described by Maurice Goldenhar in 1952 it involves abnormalities in the first and second branchial arches. This syndrome appears to have varying degree of presentation from mild to severe form. Different pathophysiological mechanisms have been proposed .Oculo auriculo vertebral syndrome which includes reduction in blood flow resulting in focal haemorrhage in the first and second branchial arches. In addition there may be cardiac vertebral and CNS defects. A male baby 30-32 wks, preterm SGA was admitted in NICU for evaluation of Congenital Malformations which includes swelling of the anterior border of both eyes with b/l preauricular ear tags, malformed pinna, high arched palate and micrognatia ophthalmology examination revealed b/l limbal dermoid inferotemporal aspect. ECHO done revealed ASD 4mm.CT scan showed obstructive hydrocephalus. Treatment of the condition varies according to the severity. Ophthalmic treatment aimed first because of amblyogenic risk. Craniofacial surgery in view of severe micrognathia systemic treatment may be related to cardiac, renal and CNS malformations. Goldenhar Syndrome is a rare congenital anomaly, with cosmetic defects whose treatment may pose numerous challenges with multidisciplinary approach for optimal management.


Keywords


Goldenhar syndrome, High arched palate, Malformed pinna, Preauricular tag

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References


Goldenhar disease. GARD. Available: https://rarediseases.info.nih.gov/diseases/6540/goldenhar-disease. Accessed on 20 April 2017.

Bhuyan R, Pati AR, Bhuyan SK, Nayak BB. Goldenhar Syndrome: A rare case report. J Oral Maxillofac Pathol. 2016;20(2):328.

Goldenhar Syndrome. Available: http://www.chop.edu/conditions-diseases/goldenhar-syndrome. Accessed on 20 April 2017.

Gaurkar SP, Gupta KD, Parmar KS, Shah BJ. Goldenhar Syndrome: A Report of 3 Cases. Indian J Dermatol. 2013;58(3):244.

Patil NA, Patil AB. Goldenhar syndrome: Case report. IJSS Journal of Surgery. 2015;1:18-20.

Kundu GK, Kawser CA, Nandi ER. Goldenhar Syndrome-Two Case Report. BAOJ Neuro. 2017;3:028.

Pinheiro AL, Araújo LC, Oliveira SB, Sampaio MC, Freitas AC. Goldenhar’s syndrome-case report. Braz Dent J. 2003;14:67-70.