Aude Tessier1,2, Mélie Sarreau3,4, Fanny Pelluard5, Gwenaelle André5, Sophie Blesson6, Martine Bucourt7, Pierre Dechelotte8, Laurence Faivre9, Thierry Frébourg1, Alice Goldenberg1, Valérie Goua4, Corinne Jeanne-Pasquier10, Fabien Guimiot11, Annie Laquerriere2, Nicole Laurent12, Mathilde Lefebvre9,12, Philippe Loget13, Martine Maréchaud4, Charlotte Mechler14, Marie-Josée Perez15, Jean Christophe Sabourin2, Alain Verloes16, Sophie Patrier2, Anne-Marie Guerrot1. 1. Department of Genetics, Rouen University Hospital and Inserm U1079, Faculty of Medicine, Normandy Centre for Genomic and Personalized Medicine, Rouen, France. 2. Department of Pathology, Rouen University Hospital, Rouen, France. 3. Department of Gynecology and Obstetrics, Angoulême Hospital, Angoulême, France. 4. Prenatal Diagnosis Unit, Poitiers University Hospital, Poitiers, France. 5. Department of Pathology, Bordeaux University Hospital, Bordeaux, France. 6. Department of Genetics, Bretonneau University Hospital, Tours, France. 7. Department of Pathology, Jean Verdier Hospital, APHP, Bondy, France. 8. Fetal Medicine Unit, Clermont-Ferrand University Hospital, Clermont-Ferrand, France. 9. Department of Genetics, FHU-TRANSLAD, University Hospital of Dijon, Dijon, France. 10. Department of Pathology, Caen University Hospital, Caen, France. 11. Department of Developmental Biology, UMR1141, Robert Debré University Hospital and Paris Diderot University, Paris, France. 12. Department of Pathology, Dijon University Hospital, Dijon, France. 13. Department of Pathology, Rennes University Hospital, Rennes, France. 14. Department of Pathology, Louis Mourier Hospital, APHP, Colombes, France. 15. Department of Genetics, Montpellier Arnaud de Villeneuve University Hospital, Montpellier, France. 16. Department of Genetics, Robert-Debré University Hospital, Paris, France.
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. 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: 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). CONCLUSION: 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.
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: 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). CONCLUSION: 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.