Prenatal Diagnosis of Fryns Syndrome: A Case Report Miğraci TOSUN, Handan ÇELİK, Emre BEŞE, Erdal MALATYALIOĞLU, Mehmet B. ÇETİNKAYA, Mehmet TÜRE, Gönül OĞUR Samsun, Turkey Fryns syndrome (FS) is a rare malformation. Major diagnostic criteria include congenital diaphragmatic hernia, distal limb and nail hypoplasia and abnormal facial appearance. We report a case of FS referred to our clinic at 25 weeks’ gestation with a diagnosis of congenital diaphragmatic hernia. Sonographic examination of the fetus revealed microretrognathia, a short neck with nuchal folds (17 mm), a left-sided diaphragmatic hernia, bilateral pelviectasis and cutaneous edema. The diagnosis of FS was made after exclusion of chromosome aberrations by amniocentesis and delivery of the fetus. Macroscopic inspection revealed low-set posteriorly rotated ears, microretrognathia, complet mid cleft palate, a broad nasal bridge, low hairline, short neck, distal limb hypoplasia, rocker bottom feet, atypical female dominant genitalia. Key Words: Fryns syndrome, Congenital diaphragmatic hernia, Ultrasound findings Gynecol Obstet Reprod Med;15:1 (47 - 49)
Prenatal Diagnosis of Fryns Syndrome: A Case Report Miğraci TOSUN, Handan ÇELİK, Emre BEŞE, Erdal MALATYALIOĞLU, Mehmet B. ÇETİNKAYA, Mehmet TÜRE, Gönül OĞUR Samsun, Turkey
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