Fryns syndrome: case report and review of the literature.
Fryns syndrome (FS) is a rare malformation. We report a case of FS referred to our clinic at 27 weeks' gestation with a diagnosis of congenital diaphragmatic hernia. Sonographic examination of the fetus revealed a left-sided diaphragmatic hernia, pulmonary hypoplasia, and a median orofacial cleft. The diagnosis of FS was made after exclusion of chromosome aberrations and delivery of the fetus. Macroscopic inspection revealed a coarse face (hypertelorism and broad and flat nasal bridge, anteverted nostrils, median cleft lip/palate, poorly shaped auricles with attached earlobes, facial hirsutism), a narrow thorax, nail hypoplasia, and hypoplastic, widely spaced nipples.
Yucesoy
Gulseren
G
Department of Obstetrics and Gynecology, Kocaeli University, Faculty of Medicine, 41000, Umuttepe, Kocaeli-Turkey.
Cakiroglu
Yigit
Y
Caliskan
Eray
E
D000328:Adult; D002972:Cleft Palate / Q000000981:diagnostic imaging* / Q000196:embryology; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006548:Hernia, Diaphragmatic / Q000000981:diagnostic imaging* / Q000196:embryology; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D008171:Lung Diseases / Q000151:congenital / Q000000981:diagnostic imaging* / Q000196:embryology; D009260:Nail Diseases / Q000151:congenital / Q000000981:diagnostic imaging* / Q000196:embryology; D011247:Pregnancy; D011256:Pregnancy Outcome; D013577:Syndrome; D016216:Ultrasonography, Prenatal / Q000379:methods*