Dr.Subhojit Chakraborty

Abstract

Fraser syndrome is a rare ophthalmic presentation with autosomal recessive inheritance.It is observed in 1 in 200,000 newborns accounting for 1 in 10,000 fetal deaths.Mutation in FRAS1 gene,retinoids,maternal vitamin A defeiciency play a role.Globally few cases are reported.A 20-day-old child born to non-consanguineous parents was referred from newborn care unit He suffered from perinatal asphyxia.There was no maternal history of radiation,trauma,drug exposure.On examination,bilateral complete cryptophthalmos,hypertelorism,head circumference below third percentile were observed.Additionally,syndactyly cleft palate,dysplastic ears,umbilical hernia and anorectal defects were identified.Imaging modalilities revealed a rudimentary globe, no orbital cyst with abscence of crystalline lens in left eye..Unilateral renal agenesis and cryptorchidism was discovered.He was managed conservatively.Three staged reconstructive surgery with MMG was planned.Genetic counselling of parents was followed.