GOLDENHAR SYNDROME- A CASE REPORT

By Dr. Sonali Ashok Bhosale(Junior resident ,Dr V.M.Government medical college,

solapur )

INTRODUCTION Goldenhar syndrome is a birth defect resulting

from the maldevelopment of the first two branchial arches with incomplete development of the ear, nose, soft palate, lip and mandible.

It is unilateral in 70-80% of the cases Prevalence rate is 1-9/per 100000 and Incidence rate is 1 per 25000-45000 births Male is more commonly affected than the

female (ratio 2:1).

Ocular anomalies occur in about 50% of the cases.

Epibulbar dermoid and lipodermoid are the most common.

Limbal dermoid or lipodermoid are mainly located in the inferotemporal region of the eye.

Coloboma of the upper eyelid may be present.

Extraocular defects are reported in 65% of the cases and include

Pre-auricular tags, microtia, anotia, conductive hearing loss.

Vertebral anomalies are combination of hemivertebra, fused ribs, kyphosis and scoliosis.

Additional features such as cardiac, genito-urinary and pulmonary systems can also be affected.

Case report An 8 years old male child

reported at the outpatient department of Ophthalmology, DrVMgovernment medical college, solapur,on 15 march 2016 with complains of

-swelling of the lower and outer part of eye

-yellowish pink swelling in the outer part of the right eye

-associated with preauricular tags, hemifacial asymmetry.

Ocular examination revealed -a smooth and soft mass in

the temporal side of right eye -posterior limit of which could

not be seen. -From above downwards it

was extending from the superior to the inferior fornix.

On palpation -It was found to be soft, nontender and its temperature was not raised

-It could be moved over the underlying structure and conjunctiva over it could also be moved.

His visual acuity was 6/6 in both eyes. The rest of anterior segment was normal Fundoscopic examination was found

normal. Left eye was normal.

The clinical diagnosis was Dermolipoma, which was confirmed by a histological examination of an excised portion.

ENT examination revealed preauricular tags present in both ears

No other abnormalities were detected. Systemic examination like cardiovascular,

pulmonary and genito-urinary systems was done but no abnormalities were detected.

The laboratory investigations were within normal limits.

Electrocardiography was normal, X-ray chest (postero anterior view) showed

nothing abnormality detected, X-ray of the vertebral column was normal.

Complete excision of the lipodermoid was achieved.

Conclusion This case has been presented to

increase the awareness of this rare entity.

To highlight the clinical findings and association with various systemic conditions.

Multidisciplinary treatment approach and long term follow up is required to monitor the growth and development of such patients.