Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.
Fiche publication
Date publication
décembre 2016
Journal
Prenatal diagnosis
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
Tous les auteurs :
Tessier A, Sarreau M, Pelluard F, André G, Blesson S, Bucourt M, Dechelotte P, Faivre L, Frébourg T, Goldenberg A, Goua V, Jeanne-Pasquier C, Guimiot F, Laquerriere A, Laurent N, Lefebvre M, Loget P, Maréchaud M, Mechler C, Perez MJ, Sabourin JC, Verloes A, Patrier S, Guerrot AM
Lien Pubmed
Résumé
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.
Mots clés
Abnormalities, Multiple, diagnosis, Airway Obstruction, diagnostic imaging, Congenital Abnormalities, diagnostic imaging, Craniofacial Abnormalities, diagnosis, Ear, abnormalities, Eye Abnormalities, diagnostic imaging, Female, Fraser Syndrome, diagnosis, Gestational Age, Humans, Hydrops Fetalis, diagnostic imaging, Infant, Newborn, Kidney, abnormalities, Oligohydramnios, diagnostic imaging, Phenotype, Pregnancy, Prenatal Diagnosis, methods, Syndactyly, diagnostic imaging, Ultrasonography, Prenatal, Urogenital Abnormalities, diagnosis
Référence
Prenat. Diagn.. 2016 Dec;36(13):1270-1275