Kneitel Anna W, Norby Audrey, Vettraino Ivana, Treadwell Marjorie C
a University of Michigan Department of Obstetrics and Gynecology , Ann Arbor , Michigan , USA.
b Genesys Regional Medical Center , Flint , Michigan , USA.
Fetal Pediatr Pathol. 2015;34(6):361-4. doi: 10.3109/15513815.2015.1087609. Epub 2015 Oct 14.
Noonan syndrome is a multisystem genetic disorder caused by genes encoding proteins involved in the RAS-MAPK pathway. Affected fetuses have variable presentations ranging from the absence of prenatal findings to increased nuchal fold, cystic hygromas, pleural effusions, cardiac malformations, or skin edema. We describe a male fetus who had features consistent with Noonan syndrome at the time of fetal anatomic survey, including hydrops and a possible cardiac defect. Subsequent scan revealed persistent bilateral pleural effusions (with predominance of lymphocytes). After bilateral thoracoamniotic shunt placement, the fetus did well and delivered at term. Prenatal testing revealed an S650F missense mutation in the RAF1 gene, which had not previously been associated with Noonan syndrome.
努南综合征是一种多系统遗传性疾病，由编码参与RAS-MAPK信号通路的蛋白质的基因引起。受影响的胎儿表现各异，从无产前检查异常到颈部褶皱增厚、囊性水瘤、胸腔积液、心脏畸形或皮肤水肿。我们描述了一名男性胎儿，在胎儿解剖检查时具有与努南综合征一致的特征，包括水肿和可能的心脏缺陷。随后的扫描显示双侧胸腔积液持续存在（以淋巴细胞为主）。在双侧胸腔羊膜分流术后，胎儿情况良好并足月分娩。产前检测发现RAF1基因存在S650F错义突变，该突变此前未与努南综合征相关联。
