Necip Sefa ÖZDEN, Arda ÖZDEMİR, Nijat BABAYEV, Savaş SEREL

Yarık Damak ve Yarık Dudak İçeren Fraser Sendromu Olgusu: Olgu Sunumu ve Literatürün Gözden Geçirilmesi

Fraser sendromu kriptoftalmi-sindaktili sendromu olarak da bilinen ve nadir görülen otozomal resesif multisistemik bir genetik hastalıktır. Bu sendrom ilk kez 1962 yılında Kanadalı genetik uzmanı Fraser tarafından tanımlanmıştır. Kriptoftalmi, kutanöz sindaktili, baş-boyun anomalileri, ürogenital ve santral sinir sistemi malformasyonları bu sendromun ana özelliklerdir. Bu olgu sunumunda kriptoftalmi, sindaktili, testiküler agenezi, kraniofasyal anomali ve bilateral yarık dudak-damak patolojilerini barındıran bir Fraser sendromu olgusu sunulmuştur.

A Cleft Lip and Palate Case With Fraser Syndrome: Case Report and Literature Review

Fraser syndrome, which is also known as cryptophthalmos-syndactyly syndrome, is a rare autosomal recessive multisystemic genetic disease. This syndrome was first described in 1962 by Canadian Genetic specialist Fraser. Cryptophthalmos, cutaneous syndactyly, head and neck anomalies, urogenital and central nervous system malformations are the main features. In this case report, a patient with cryptophthalmos, syndactily, testicular agenesis, craniofacial anomalies and bilateral cleft lip-palate, who was diagnosed with Fraser syndrome, was presented.

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Sangtani JK, Kamble RH, Shrivastav S, et al. Fraser syndrome without cryptophthalmos: A rare case report. Journal of Cleft Lip Palate and Craniofacial Anomalies. 2015;2:139-142.
Online Mendelian Inheritance in Man, OMIM (TM) 2008. Johns Hopkins University, Baltimore, MD. MIM Number: 219000: Fraser syndrome. http:// www.ncbi.nlm.nih.gov/ omim.
Narang M, Kumar M, Shah D. Fraser-cryptophthalmos syndrome with colonic atresia. Indian J Pediatr. 2008;75:189-191.
Kiyozumi D, Sugimoto N, Sekiguchi K. Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. Proc Natl Acad Sci U S A. 2006;103:11981-11986.
Wood BC, Yi S, Oh AK, et al. Frontal Encephalocele Associated With a Bilateral Tessier Number Three Cleft and Fraser Syndrome. J Craniofac Surg. 2015;26:1947-19450.
Thomas IT, Frias JL, Felix V, et al. Isolated and syndromic cryptophthalmos. Am J Med Genet. 1986;25:85-98.
van Haelst MM, Scambler PJ; Fraser Syndrome Collaboration Group, Hennekam RC. Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. Am J Med Genet A. 2007;143A:3194-3203.
Kiran G, Namita G, Dheeraj S. Recurrent Fraser syndrome. Prenat Diagn. 2007;27:184-185.
Omori M, Chytil F. Mechanism of vitamin A action. Gene expression in retinol-deficient rats. J Biol Chem. 1982;257:14370-14374.
Agrawal K. Cleft palate repair and variations. Indian J Plast Surg. 2009;42 Suppl:S102-S109.
Yosunkaya E, Fenercioğlu F, Yüksel A. Fraser sendromu: Bir vaka sunumu. Fırat Tıp Dergisi. 2009;14:274-279.
Saleh GM, Hussain B, Verity DH, et al. A surgical strategy for the correction of Fraser syndrome cryptophthalmos. Ophthalmology. 2009;116:1707-1712. e1.
Ramsing M, Rehder H, Holzgreve W, et al. Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn. Clin Genet. 1990;37:84-96.
Slavotinek AM, Tifft CJ. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet. 2002;39:623-633.
Kılınç N, Demir S, Demir B. Fraser Sendromu: İki Olgu Bildirimi. Medical Bulletin of Haseki/Haseki Tip Bulteni. 2015;53:273-276.