title: Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.
abstract: 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.
  
  
  METHODS
  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
  Including both prenatal and postnatal fetal phenotypic evaluation, all cases presented dysmorphic features with nose and ear dysplasia. Renal anomalies and syndactyly were present in 37/38 cases, cryptophtalmos in 36/38, airways anomalies in 30/37 and genital anomalies in 30/35 cases. Anomalies of the abdominal wall such as low set umbilicus and omphalocele were found in 31 cases. Among the 26 cases for which ultrasound data were available, detectable anomalies included oligohydramnios (22), ascites/hydrops (9), renal anomalies (20), evidence for high airways obstruction (11), ophthalmologic anomalies (4), ear dysplasia (2) and syndactyly (2).
  
  
  CONCLUSIONS
  This study shows that the postnatal phenotype of FS is very specific, whereas oligohydramnios hampers the prenatal recognition of the cardinal FS diagnosis criteria. Association of oligohydramnios, kidney agenesis and CHAOS should lead to consider this diagnosis. © 2016 John Wiley & Sons, Ltd.
authors.affiliation: Department of Genetics, Rouen University Hospital and Inserm U1079, Faculty of Medicine, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.|Department of Pathology, Rouen University Hospital, Rouen, France.
authors.forename: Aude
authors.initials: A
authors.lastname: Tessier
authors.affiliation: Department of Gynecology and Obstetrics, Angoulême Hospital, Angoulême, France.|Prenatal Diagnosis Unit, Poitiers University Hospital, Poitiers, France.
authors.forename: Mélie
authors.initials: M
authors.lastname: Sarreau
authors.affiliation: Department of Pathology, Bordeaux University Hospital, Bordeaux, France.
authors.forename: Fanny
authors.initials: F
authors.lastname: Pelluard
authors.affiliation: Department of Pathology, Bordeaux University Hospital, Bordeaux, France.
authors.forename: Gwenaelle
authors.initials: G
authors.lastname: André
authors.affiliation: Department of Genetics, Bretonneau University Hospital, Tours, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Blesson
authors.affiliation: Department of Pathology, Jean Verdier Hospital, APHP, Bondy, France.
authors.forename: Martine
authors.initials: M
authors.lastname: Bucourt
authors.affiliation: Fetal Medicine Unit, Clermont-Ferrand University Hospital, Clermont-Ferrand, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Dechelotte
authors.affiliation: Department of Genetics, FHU-TRANSLAD, University Hospital of Dijon, Dijon, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.affiliation: Department of Genetics, Rouen University Hospital and Inserm U1079, Faculty of Medicine, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
authors.forename: Thierry
authors.initials: T
authors.lastname: Frébourg
authors.affiliation: Department of Genetics, Rouen University Hospital and Inserm U1079, Faculty of Medicine, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
authors.forename: Alice
authors.initials: A
authors.lastname: Goldenberg
authors.affiliation: Prenatal Diagnosis Unit, Poitiers University Hospital, Poitiers, France.
authors.forename: Valérie
authors.initials: V
authors.lastname: Goua
authors.affiliation: Department of Pathology, Caen University Hospital, Caen, France.
authors.forename: Corinne
authors.initials: C
authors.lastname: Jeanne-Pasquier
authors.affiliation: Department of Developmental Biology, UMR1141, Robert Debré University Hospital and Paris Diderot University, Paris, France.
authors.forename: Fabien
authors.initials: F
authors.lastname: Guimiot
authors.affiliation: Department of Pathology, Rouen University Hospital, Rouen, France.
authors.forename: Annie
authors.initials: A
authors.lastname: Laquerriere
authors.affiliation: Department of Pathology, Dijon University Hospital, Dijon, France.
authors.forename: Nicole
authors.initials: N
authors.lastname: Laurent
authors.affiliation: Department of Genetics, FHU-TRANSLAD, University Hospital of Dijon, Dijon, France.|Department of Pathology, Dijon University Hospital, Dijon, France.
authors.forename: Mathilde
authors.initials: M
authors.lastname: Lefebvre
authors.affiliation: Department of Pathology, Rennes University Hospital, Rennes, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Loget
authors.affiliation: Prenatal Diagnosis Unit, Poitiers University Hospital, Poitiers, France.
authors.forename: Martine
authors.initials: M
authors.lastname: Maréchaud
authors.affiliation: Department of Pathology, Louis Mourier Hospital, APHP, Colombes, France.
authors.forename: Charlotte
authors.initials: C
authors.lastname: Mechler
authors.affiliation: Department of Genetics, Montpellier Arnaud de Villeneuve University Hospital, Montpellier, France.
authors.forename: Marie-Josée
authors.initials: MJ
authors.lastname: Perez
authors.affiliation: Department of Pathology, Rouen University Hospital, Rouen, France.
authors.forename: Jean Christophe
authors.initials: JC
authors.lastname: Sabourin
authors.affiliation: Department of Genetics, Robert-Debré University Hospital, Paris, France.
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
authors.affiliation: Department of Pathology, Rouen University Hospital, Rouen, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Patrier
authors.affiliation: Department of Genetics, Rouen University Hospital and Inserm U1079, Faculty of Medicine, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Guerrot
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000196:embryology*; D000402:Airway Obstruction / Q000000981:diagnostic imaging / Q000196:embryology; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging / Q000196:embryology; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000196:embryology; D004423:Ear / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000196:embryology; D005124:Eye Abnormalities / Q000000981:diagnostic imaging / Q000196:embryology; D005260:Female; D058497:Fraser Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000196:embryology*; D005865:Gestational Age; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000196:embryology; D016104:Oligohydramnios / Q000000981:diagnostic imaging; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013576:Syndactyly / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal; D014564:Urogenital Abnormalities / Q000175:diagnosis