FRAS1 Gen Mutasyonuna Sahip Fraser Sendromlu Yenidoğan Olgu

Öz

Fraser sendromu, otozomal resesif kalıtım modeline sahip nadir hastalıklardan birisidir. Kriptoftalmus (saklı göz), kulak, burun ve iskelet malformasyonları, sindaktili, laringeal darlık ve ürogenital, akciğer anomalileri ana özelliklerdir.FRAS1, FREM2 ve GRİP1 genlerinde meydana gelen bir takım mutasyonlar sonucunda oluşur. Kesin tanısı gen mutasyonu tespiti ile yapılır.Bu çalışmada Fraser sendromlu FRAS1 mutasyonuna sahip bir olgu sunduk. Olgumuzda çok sayıda anomalinin bir arada olması ve Fraser sendromunun nadir görülmesi nedeniyle olguyu literatür eşliğinde tartışmayı amaçladık.

Anahtar Kelimeler

• Fraser sendromu,kriptoftalmus,sindaktili,larengeal atrezi

A Newborn Fraser Syndrome Case With FRAS1 Gene Mutation

Öz

Fraser syndrome is a rare disorder with  autosomal recessive inheritance. The main features are cryptophthalmus (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 GRYP1 genes. The definitive diagnosis is made by detecting gene mutation. In this study, we present a case with Fraser syndrome who had FRAS1 mutation. Our aim was to discuss this case which had multiple organ anomalies in the light of the literature.

Anahtar Kelimeler

• Fraser syndrome,cryptophthalmus,syndactyly,laryngeal atresia

Kaynakça

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