FRAS1 Gen Mutasyonuna Sahip Fraser Sendromlu Yenidoğan Olgu

Abstract

Fraser syndrome is a rare disorder with autosomal recessive inheritance. The main features are cryptophthalmos (hidden eye), ear, nose and skeletal malformations, syndactyly, laryngeal stenosis and malformation of the urogenital system, lungs. It occurs as a result of a number of mutations in the FRAS1, FREM2 and GRIP1 genes. The definitive diagnosis is made by detecting gene mutation. In this study, we presented a case with Fraser syndrome who had FRAS1 mutation. Since Fraser syndrome is a rare disorder and the case had multiple organ anomalies, we aimed to discuss this case in light of the literature.