Abstract
Fraser syndrome is a very rare developmental disorder of autosomal recessive inheritance. It is characterized by crytopthalmus, syndactyly and genital abnormalities. The diagnosis is usually made at birth from the obvious malformations, occasionally made on prenatal ultrasound. We report a newborn showing clinical findings associated with Fraser syndrome. She was diagnosed as Fraser Syndrome with 3 major (cryptophthalmos, syndactyly, ambigius genitalia), and 3 minor criterias (renal agenesis, umbilical herni, nose deformity). She had also hypertelorism, low neck, widely spaced nipples, agenesis of corpus callosum
Keywords: Crytopthalmus, syndactyly, ambigius genitalia, Fraser syndrome
References
- Kanhere S, Phadke V, Mathew A, Irani SF. Cryptophthalmus. Indian J 8. Tayman C, Yılmaz A, Tonbul A, Polat E, Kunak B. Fraser sendromu. 2. Vrontou S, Petrou P, Meyer BI, Galanopoulos VK, Imai K, Yanagi M, Chowdhury K, Scambler PJ, Chalepakis G. Fras1 deficiency results in criptophthalmus, renal agenesis and blebbed phenotype in mice. Nat Genet 2003;34: 209-214.
- Yeni Tıp Dergisi 2006;23: 163-166.
- Onyemekeihia R, Oviasu A. Twenty-eight-year-old female with primary amenorrhea and chronic renal failure: a case of Frasier syndrome ? J Natl Med Assoc 2004; 96: 256-258.
- Ramsing M, Rehder H, Holzgreve W, Meinecke P, Lenz W. Fraser 10. Wiznitzer A, Mazor M, Carmi R, Liebarman JR. Crytopthalmus syndrome in fetus and newborn. Clin Genet 1990;37: 84-96.