Fraser syndrome

Abstract

In a consanguineous marriage, a woman at 32 weeks' pregnancy presented with intrauterine growth retardation and bilateral renal agenesis. Fraser syndrome (cryptophthalmus syndactyly syndrome) was diagnosed based on cryptophthalmos, atresia of meatus acusticus externus in auricula, syndactyly, hypoplastic larynx, hypoplastic left lung, agenesis of urinary system and aberrant pancreas in duodenum. The syndrome is inherited as a recessive trait and the risk of recurrence is 25%.