Dilek DİLLİ, H Gözde KANMAZ, Ş Suna OĞUZ, Uğur DİLMEN

Fraser Sendromlu Bir Vaka Sunumu

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

Anahtar Kelimeler:

Fraser sendromu, kriptoftalmus, sindaktili, kuşkulu genitalya

A Case Report of Fraser Syndrome

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,

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