Article
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.
Prenatal diagnosis - 1 Dec 2016
Tessier Aude, Sarreau Mélie, Pelluard Fanny, André Gwenaelle, Blesson Sophie, Bucourt Martine, Dechelotte Pierre, Faivre Laurence, Frébourg Thierry, Goldenberg Alice, Goua Valérie, Jeanne-Pasquier Corinne, Guimiot Fabien, Laquerriere Annie, Laurent Nicole, Lefebvre Mathilde, Loget Philippe, Maréchaud Martine, Mechler Charlotte, Perez Marie-Josée, Sabourin Jean Christophe, Verloes Alain, Patrier Sophie, Guerrot Anne-Marie
Abstract excerpt
OBJECTIVE: Fraser syndrome (FS) is a rare malformation recessive disorder. Major criteria are cryptophtalmos, syndactyly, respiratory, genital and urinary tract anomalies. Few prenatal presentations have been reported. METHOD: We analyzed the prenatal and postnatal fetal phenotype in 38 cases of FS, including 25 pregnancy termination cases, 8 intra-uterine death cases and 4 cases that died after birth. RESULTS:...
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