Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.

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

https://www.ncbi.nlm.nih.gov/pubmed/27859469

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