Goldenhar Syndrome: Case Series of 12 cases

Dr. Usha Singh, Dr. Manpreet Singh.

Department of Ophthalmology, Postgraduate Institute of Medical Education and Research, Chandigarh.

Aim: To study the clinical profile and management of Goldenhar syndrome at our institute over 5 years i.e. from Sept 2005 to Sep 2010.

Methods: We retrospectively analyzed clinical data of 12 Goldenhar syndrome patients, who presented and got treated at our Institute.

Results: Total no of patients were 12(F: 10, M: 2). Nine were having unilateral and three bilateral disease. Average age of presentation was- 90 months (range: 4days-26 yrs). Chief complaints of the patients were whitish mass in eye (5), forward protrusion of eyeball (1), ocular skin tags (2), lid droop (2) and lid defect (2). Signs included Limbal dermoids (6), lid coloboma (5), dermolipoma (7), skin tags arising from conjunctiva (2), mechanical ptosis (2), microcornea (2), iris coloboma (1), cystic globe (2) and congenital cataract (1). We noticed the associated findings in these patients as facial asymmetry (8), hemifacial hypoplasia (11), pre-auricular skin tags (6), anotia (1), hyper pigmented keratinized skin on neck (1) and no cardiac / vertebral anomalies or mental retardation. We managed the patients surgically with dermolipoma excision (4), coloboma repair (5),Optical Keratoplasty with amniotic membrane transplant(1), probing (1), pre-auricular skin tag excision (1) and sclerosing agent injection into the orbital cyst(1).
Outcome: Good cosmesis and better visual acuity was achieved in all the cases with average follow up of 8 months

Conclusion: Child with Goldenhar Syndrome presenting to the ophthalmologist needs detailed ocular examination and a thorough multisystem evaluation by a paediatrician and otologist to rule out other associated disorders. Ocular disorder can be managed largely by surgical correction and effective visual and cosmetic rehabilitation can be achieved depending upon the severity of the involvement of various structures of the eye.