Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases
复制标题
DOI：
10.1002/pd.4971
复制
发表时间：
2016-12-01
影响因子：
3
通讯作者：
Guerrot, Anne-Marie
中科院分区：
文献类型：
--
作者：
Tessier, Aude;Sarreau, Melie;Guerrot, Anne-Marie
目的 弗雷泽综合征（FS）是一种罕见的畸形隐性疾病。主要标准是隐眼畸形、并指畸形、呼吸系统、生殖器和泌尿道异常。方法对38例FS的产前和产后胎儿表型进行分析，其中终止妊娠25例，宫内死亡8例，出生后死亡4例。结果包括产前和产后胎儿表型评估，所有病例均表现出鼻、耳发育不良等畸形特征。 37/38 例存在肾脏异常和并指，36/38 例存在隐眼畸形，30/37 例存在气道异常，30/35 例存在生殖器异常。脐低位、脐膨出等腹壁异常31例。在可获得超声数据的 26 例病例中，可检测到的异常包括羊水过少 (22)、腹水/积水 (9)、肾脏异常 (20)、高位气道阻塞的证据 (11)、眼科异常 (4)、耳朵发育不良 (2) 和并指 (2)。 结论 这项研究表明 FS 的产后表型非常明显 羊水过少阻碍了对 FS 主要诊断标准的产前认识。羊水过少、肾发育不全和混乱的关联应导致考虑这一诊断。 (C) 2016 约翰威利父子公司。
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. (C) 2016 John Wiley & Sons, Ltd.