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2004, Volume 20, Number 1-2, Page(s) 036-039     
[ Abstract (Turkish) ] [ PDF ]
FRASER SYNDROME: A CASE REPORT
Nusret AKPOLAT, Hüsnü ÇELİK, Özgen ARSLAN SOLMAZ
Fırat Üniversitesi Tıp Fakültesi Patoloji Anabilim Dalı, Fırat Üniversitesi Tıp Fakültesi Kadın Hastalıkları ve Doğum Anabilim Dalı

Fraser syndrome is an autosomal recessive multiple malformation syndrome. It was first described by Fraser in 1962. It is characterized by cryptophthalmos, syndactyly, malformation of the larynx and genitourinary tract, kraniofacial dysmorphisms, orofacial clefting, mental retardation, and musculoskeletal anomalies. In the ultrasonographic examination, intrauterine ex fetus with left renal agenesis and abdominal cyst formation was detected in 36th gestastional week. In the autopsy, cryptophthalmia, abnormalities of ear and nose, syndactyly on both feet and on the left hand, anal atresia, ambiguous genitalia, hydrometrocolpos, laryngeal stenosis and unilateral renal agenesis was detected. In this report we present a case with Fraser syndrome. Our aim was to discuas this case which had multiple organ anamalies in the light of the literature.

[ Abstarct (Turkish) ] [ PDF ]