RARE CASE OF GOLDENHARS SYNDROME IN A 3 YEARS OLD MALE CHILD

RARE CASE OF GOLDENHARS SYNDROME IN A 3 YEARS ILD MAKE CHILD PROFILE PROF PROFILE TITLE CASE REPORT NAME OF ARTICLE RARE CASE OF GOLDENHARS SYNDROME IN A 3 YEARS OLD MALE PATIENT AFFILIATION AUTHOURS NAME DR GOWHAR AHMAD SR CON OPHTHALMOLOGIST DEPT OF OPHTHALMOLOGY FLORENCE HOSPITAL CHANAPORA SRINAGAR KASHMIR UNIVERSITY OF J AND K COUNTRY INDIA e-mail address gowhar.ahmad1948@gmail.com Key words Cong LImbal Dermiod Preauricular skin tag Preauricular appendage sqiunt Anophthalmos Coloboma of u lid iris retina astigmatism MICROPHTHALMOS BLEPHROPHMOSIS syndrome high arched palate hare lip soft plate Facial asymetry hydronephrosis DOUBLE URETERS defects in limbs spine cong heart underlying orbital involvement Dental Anamolies hearing defects impairment of memory inteligence mental facality 7th nerve involvement trigeminal anasthesia Abastract Maurice goldenhar an Austrian ophthalmologist who in the year 1850 was the first to describe a Syndrome complex chareterised by cong presence of LImbal Dermiod with associated presence of Preauricular skin tag or Preauricular Sometimes presence of SQUINT ANOPHTHALMOS COLOBOMAS OF u lid iris Retina astigmatismleohsas MICROPHTHALMOS BLEPHROPHMOSIS syndrome may be seen HOWEVER IT IS VERY rare G h s is also termed as OCULO AURICULO VERTEBRAL SYNDROME And craniifacial Syndrome involving head face ear NOSE soft PALATE AND MANDIBLE 80 ton85 percent cases of G H S Are normal from.visual and ophthalmic point of view It is only in 10 ton15 percent cases that THEIR ARE additional cong Anamolies which are due to incomplete Devolpment of first and second branchial arch due to the f defects in genes not inherered autosomal dominant and recessive or may be due to MATERNAL GESTATIONAL D M or exposure to RUBELLA HEAMOPHILUS nor CYTOMEGALIC Inc virus Or may be due to intake of thalidomide cocaine and retinoic acid THese additional cong Anamolies are in the form of FACIAL ASYMETRY HIGH ARCHED PALATE HARE lip cleft palate Double ureters HYDRONEPHROSIS DEFECTS IN LIMBS and spine cong heart underlying orbital involvement dental Anamolied hearing defects 7th nerve involement trigemenal ANASTHESIA Impaired of memory And mental facility Cong LImbal Dermiod are usually Unilateral can be Bilteral though rare may involve entire cornea or may be only confined to Conjuctiva Prevalence is 1 in 10 000 Inferotemporal site is the most commonest about 70 percent Male female ratio is 3 to 2 GRADED ACCORDING TO CORNEAL involement Grade 1 EPETHELIAL INVOLVEMENT Grade 2 involvement of Desmets membrane Grade 3 involvement of entire ant segment CASE report A 3 years old male child was seen by me some time ago in my office with parents having noticed a small oblong palish white lesion near inferotemporal site of the Limbus r eye since birth with associated presence of Preauricular skin tag leftbside this was diagnostic of g h.s delivered child from nonncousin married' parents no history'of exposure to oxygen or jaundice breast fed normal mile stones Va refration and FUNDII normal no others assiciated cong Anamolies So this child had cong LImbal dermiod atbtge commonest site not involvimg visual axis so neede Parenteral REASSURANCE and observation However if the LImbal Dermiod involves Visual axis treament is surgical which is both Visual and cosmotic Surgical modalities are Lamellar kerataplasty Autograft Stem cell graft Amionotic membrane graft Smile lenticule tatooining fibrin glue Here we excisie the LImbal Dermiod then tatooed to regain its orginal COLOUR corneal lenticule is out in situ held by fibrin glue since no stiches are used their is no post ooerstive psinnand ASTIGMATISM DISCUSSION G h s is a Cong gentic condition chareterised by cong presence of Preauricular skin tag or Preauricular 80nto 85 percent cases are normal from.visual and mental FACALITY POINT OF VIEW ONLY 10 TO 15bpercent cases have additional cong Anamolies Acknowledgements nil Conflict of interest I have no financial interest in publishing this article Refences We have G H S SUPPORT GROUPS 17 FAMILIES OF G H S ARE SEEN IN GREECE CHILDREN BORN IN MIDDLE EAST DURING GULF BORN IN DIFFERENT MILIATRY HOSPITALS HAD HIGH INCEDENCE OF G H S MITTALET ALL IN INDIAN JOURNAL OF OPHTHALMOLOGY IN YEAR 1968 REPORTED 3 CASES OF OPTIC NERVE HEAD DRUSENS ASSOCIATED WITH G H S

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