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

Necip Sefa Özden

doi:10.4274/atfm.galenos.2021.21033

Case Report

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

Year 2022, Volume: 75 Issue: 1, 134 - 138, 30.06.2022

Necip Sefa Özden

Abstract

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.

Keywords

Fraser Sendromu, Konjenital Anomali, Yarık Damak-Dudak

Ethical Statement

Informed Consent: Written informed consent was obtained from parents of patient. Peer-review: Externally peer-reviewed.

Supporting Institution

Project Number

Thanks

References

1. Sangtani JK, Kamble RH, Shrivastav S, et al. Fraser syndrome withoutcryptophthalmos: A rare case report. Journal of Cleft Lip Palate andCraniofacial Anomalies. 2015;2:139 142.
2. 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.
3. Narang M, Kumar M, Shah D. Fraser-cryptophthalmos syndrome with colonic atresia. Indian J Pediatr. 2008;75:189-191.
4. 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.
5. 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.
6. Thomas IT, Frias JL, Felix V, et al. Isolated and syndromic cryptophthalmos. Am J Med Genet. 1986;25:85-98.
7. 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.
8. Kiran G, Namita G, Dheeraj S. Recurrent Fraser syndrome. Prenat Diagn. 2007;27:184-185.
9. Omori M, Chytil F. Mechanism of vitamin A action. Gene expression in retinol-deficient rats. J Biol Chem. 1982;257:14370-14374.
10. Agrawal K. Cleft palate repair and variations. Indian J Plast Surg. 2009;42 Suppl:S102-S109.
11. Yosunkaya E, Fenercioğlu F, Yüksel A. Fraser sendromu: Bir vaka sunumu.Fırat Tıp Dergisi. 2009;14:274-279.
12. Saleh GM, Hussain B, Verity DH, et al. A surgical strategy for the correction of Fraser syndrome cryptophthalmos. Ophthalmology. 2009;116:1707-1712. e1.
13. Ramsing M, Rehder H, Holzgreve W, et al. Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn. Clin Genet. 1990;37:84-96.
14. 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.
15. Kılınç N, Demir S, Demir B. Fraser Sendromu: İki Olgu Bildirimi. Medical Bulletin of Haseki/Haseki Tip Bulteni. 2015;53:273-276.