FRAS1 Gen Mutasyonuna Sahip Fraser Sendromlu Yenidoğan Olgu

Yıl 2019, Cilt: 28 Sayı: 6, 452 - 455, 06.12.2019

Zübeyde Dinçer , Hatice Güneş , Nurgül Çimen Parlak Salim Ekici , Sevcan İpek , Sadık Yurttutan

https://doi.org/10.17942/sted.443583

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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