Gowhar Ahmad
SN Medical College, University of Agra, India.
Title: Rare case of Goldenhar syndrome in a 3 years male child
Biography
Biography: Gowhar Ahmad
Abstract
G H syndrome is a rare condition presenting with cog presence of limbal dermiod with cong. Association of pre-auricular skin tag or pre-auricular appendage or sometimes squint, there is defect in chromosome yet it is not inherited but it is also called occulo auriculo vertebral syndrome or dysplasia there is incomplete development of 1st and 2nd branchial arch which manifests as defects in head and neck involving 1 ear 2 nose 3 soft plate and mandible in very small percentage 5 to 15 percept cases one has hearing defect 2 impairment of memory 3 defects in spine and limbs and may be kidney involvement and cog heart and dental anomalies one has to do m r i in these case to exclude underlying orbital dermiod 2 hearing test 3 x ray limbs and spine and ultra sound abdomen to exclude kidney involvement key words 1 limbal dermiod 2 pre auricular skin tag 3 squint 4 hearing defect 5 impairment of intelligence 6 spine and limb deformities 7 cog heart introduction g h s is a rare condition characterised by cog presence of a limbal dermiod and cog pre auriculat apendage limbal dermiod may sometimes be bilateral they either involve entire cornea or may be confined to conjunctiva only incidence is 1 in 500 to 2500 infer temporal site of limbal dermiod is the commonest about 70 percent results are satisfactory most of these case live a normal life and most of them have normal intelligence case report 3 years male chid was seen by me in my office 6 months back with parents having noticed an oval palish white infero temporal limbal lesion left eye with cong presence of pre auricular skin tag r ear f t child born after lsc section breat fed normal stones no other cog deformaty 1 normal intelligence hearing no deformaties of teeth limbs and spine discussion limbal dermiods r graded according to involvement of cornea b grade v1 when only epithelium is involved grade 2 des membrane grade 3 entire ant segment my case was grade 1 limbal dermiod and had the commonest site of infero temporal vision refraction and fundus was normal so was m r i orbits and ultrasound abdomen conclusion the treatment is 1 visual and 2 cosmotic if limbal ermiod involves pupillary area and the tens vision one can do 1 lamellar keratoplasty 2 aminotic membrane graft 3 stem cell graft references thir r families of greek who have g h s 2 in gulf war children were born with g h s born in various militry hospitals 3 drusen of optic nerve head is reported to be associated with g h syndrome.