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 bilateral cryptophtalmos, flat nose, hypoplastic nose and ears, mycrostomy, bifid uvula and cleft palate, laryngeal stenosis, 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 discussed in the light of the literature.