Fraser Sendromlu Bir Vaka Sunumu

Year 2010, Volume: 10 Issue: 3, 144 - 147, 01.07.2010

Dilek Dilli H Gözde Kanmaz Ş Suna Oğuz Uğur Dilmen

https://doi.org/10.5222/j.child.2010.144

Abstract

Fraser sendromu kriptoftalmus, kulak ve burun anomalile- ri, kütanöz sindaktili, larengeal, renal ve genital anomali- lerle karakterize otozomal resesif geçişli ender görülen bir hastalıktır. Bu makalede, bilateral kriptoftalmus, basık burun kökü, hipoplastik burun ve kulaklar, mikrostomi, bifid uvula ve yarık damak, larengeal stenoz, sindaktili, kuşkulu genital yapı, perineal fistül ve anal atrezi saptanan bir erkek vaka sunuldu. Bu bulgulara ek olarak vakamızın fetal ultrasonografisinde infantil tip polikistik böbrek sap- tandı. Fenotipik özellikleriyle Fraser sendromu tanısı konulan vaka literatürler ışığında tartışıldı

Keywords

Fraser sendromu, kriptoftalmus, sindaktili, kuşkulu genitalya

A Case Report of Fraser Syndrome

Abstract

Fraser syndrome is a rare autosomal recessive disorder characterized with cryptophtalmos, dysmorphic ear and nose, cutaneous syndactyly, laryngeal, renal, and genital abnormalities. In this paper, a male infant who had bilate- ral cryptophtalmos, flat nose, hypoplastic nose and ears, mycrostomy, bifid uvula and cleft palate, laryngeal steno- sis, syndactyly, ambiguous genitalia, perineal fistula, and anal atresia was reported. In addition to these findings, infantile type bilateral polycystic kidney was detected in his fetal ultrasonogram. The patient whose phenotypic findings were consistent with Fraser syndrome was discus- sed in the light of the literature

Keywords

Fraser syndrome, cryptophtalmos, syndactyly, ambiguous genitalia

References

• Fraser GR. Our genetical ‘load’. A review of some aspects of genetic variation. Ann Hum Genet 1962; 25:387-415.
• Slavotinek A, Li C, Sherr EH, Chudley AE. Mutation analy- sis of the FRAS1 gene demonstrates new mutations in a pro- positus with Fraser syndrome. Am J Med Genet A 2006; A:1909-14.
• Johns Hopkins University, Baltimore, MD. MIM Number: : Fraser syndrome. http://www.ncbi.nlm.nih.gov/ omim/ syndrome with colonic atresia. Indian J Pediatr 2008; 75:189
• Group, Hennekam RCM. Fraser Syndrome: A clinical study of cases and evaluation of diagnostic criteria. Am J Med Genet A 2007; 143A:3194-203.
• Guay-Woodford LM. Autosomal recessive polycystic kidney disease: outcomes from a single center experience Pediatr Nephrol 2003; 18:119-26.
• Prospective prenatal diagnosis of Fraser syndrome variant in a family with negative history. Prenat Diagn 2004; 24:69-70.
• Mahadevan B, Bhat BV, Sastri AT, Rao S, Kusre G. Fraser syndrome with unusual features: A case report. J Anat Soc India 2002; 51:59-60.
• Bir vaka sunumu. Fırat Tıp Dergisi 2009; 14:274-79. the blebs mouse mutants. Hum Molec Genet 2005; 14:269- membrane localization of Frem3 is independent of the Fras1/
• Frem1/Frem2 protein complex within the sublamina densa. Matrix Biol 2007; 26:652-58.
• 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 USA 2006; 103:11981-1986.
• Short K, Wiradjaja F, Smyth I. Let’s stick together: The role of the Fras1 and Frem proteins in epidermal adhesion. IUMBM Life 2007; 59:427-35.
• Dörfler M, Germbruch U. Prenatal detection of Fraser syndrome without crypophtalmos: case report and review of the literature. Ultrasound Obstet Gynecol 2001; 18:76-80.
• Kiran G, Namita G, Dheeraj S. Recurrent Fraser syndrome. Prenatal Diagn 2007; 27:184-5.