Premium
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases
Author(s) -
Tessier Aude,
Sarreau Mélie,
Pelluard Fanny,
André Gwenaelle,
Blesson Sophie,
Bucourt Martine,
Dechelotte Pierre,
Faivre Laurence,
Frébourg Thierry,
Goldenberg Alice,
Goua Valérie,
JeannePasquier Corinne,
Guimiot Fabien,
Laquerriere Annie,
Laurent Nicole,
Lefebvre Mathilde,
Loget Philippe,
Maréchaud Martine,
Mechler Charlotte,
Perez MarieJosée,
Sabourin Jean Christophe,
Verloes Alain,
Patrier Sophie,
Guerrot AnneMarie
Publication year - 2016
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4971
Subject(s) - syndactyly , medicine , oligohydramnios , renal agenesis , prenatal diagnosis , renal dysplasia , omphalocele , polyhydramnios , dysplasia , obstetrics , pregnancy , fetus , pediatrics , urinary system , pathology , surgery , anatomy , kidney , biology , genetics
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. © 2016 John Wiley & Sons, Ltd.