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
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.
KRİPTOOFTALMUS, SİNDAKTİLİ, KUŞKULU GENİTALYA İLE KARAKTERİZE BİR YENİDOĞAN NEDENİYLE FRASER SENDROMU
Abstract
Fraser Sendromu otozomal resesif geçiş gösteren nadir bir genetik hastalıktır. Kriptooftalmus, sindaktili ve genital anomaliler ile karakterizedir. Tanı genellikle doğumda var olan malformasyonlar ile konulmakta, nadiren prenatal ultrasonografi de tanımlayıcı olabilmektedir. Burada Fraser sendromunun klinik bulguları olan bir yenidoğan sunulmaktadır. Hastamız 3 major (kriptooftalmus, sindaktili, kuşkulu genitalya) ve 3 minor anomalisi (burun anomalisi, renal agenezi, umblikal herni) olduğundan Fraser sendromu tanısı almıştır. Tanımlayıcı fasial fenotipik görünüme sahip olan hastamızda bilateral kriptooftalmus dışında basık-geniş burun kökü, hipertelorizm, kısa boyun, ayrık meme başı ve korpus kallosum agenezisi saptanmıştır.
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.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Clinical Sciences |
| Other ID | JA83PT97TG |
| Journal Section | Research Article |
| Authors | |
| Publication Date | June 1, 2007 |
| Submission Date | June 1, 2007 |
| Published in Issue | Year 2007 Volume: 1 Issue: 1 |
The publication language of Turkish Journal of Pediatric Disease is English.
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