Çocuk Sağlığı ve Hastalıkları Dergisi
2013 , Vol 56 , Num 1
Fraser syndrome: a case report
Etlik Zübeyde Hanım Kadın Hastalıkları Eğitim ve Araştırma Hastanesi
1Pediatri Uzmanı, 2Neonatoloji Uzmanı, 3Pediatri Doçenti
Fraser syndrome is a rare autosomal recessive malformation syndrome
characterized by cryptophthalmos, syndactyly, and laryngeal and urogenital
defects. The diagnosis of this syndrome can be made on clinical examination
and occasionally on prenatal ultrasound. We report a newborn who presented
with respiratory failure in the neonatal intensive care unit and was diagnosed
as Fraser syndrome with clinical findings such as cryptophthalmos, syndactyly,
anal atresia, and laryngeal atresia.
Anahtar Kelimeler :
Fraser sendromu, kriptooftalmus, sindaktili, larengeal stenoz.