Fraser Syndrome: A Report of a Case from Bamako

Abstract

Fraser syndrome is a rare autosomal resecessive polymalformatif syndrome whose main manifestations are: the cryptophtalmia, syndactylies, visceral and urogenital defects. We report the case of a 6 year old child, 3rd child of a sibling of 3 children from consanguineous marriage, without antecedents personal and family, received in consultation at CHU-IOTA for unilateral symblepharon, syndactyly of 2nd and 3rd interdigital spaces without any other organic defects. The diagnosis of Frazer syndrome has been retained and the child is referred to the team of annexes and orbito-palpebral surgery for better surgical management of cryptophtalmia and parents were referred to the geneticist for genetic counselling regarding future pregnancies. We emphasize the genetic aspects, utility of Tomas’ diagnostic criteria and necessity of prenatal diagnosis.