Characteristic/Case
Case 1 Stevens et al. 2017 Milosavljevic et al. 2016 Matyášová et al. 2019 Quinlan-Jones et al. 2019 Case 2 Yates et al. 2017
Genomic RIT1 variant (NM_006912.5) c.268A>G c.268A>G c.268A>G c.268A>G c.268A>G c.245T>G c.245T>G
Protein variant (NP_008843.1) p.Met90Val p.Met90Val p.Met90Val p.Met90Val p.Met90Val p.Phe82Cys p.Phe82Cys
De novo + + + + + + +
Fetal (prenatal) Fetal (prenatal) Fetal (prenatal) Fetal (prenatal) Fetal (prenatal) Fetal (prenatal) Fetal (prenatal) Fetal (prenatal)
Increased nuchal translucency + $ + + +
Cystic hygroma + + + + + +
Large jugular lymphatic sacs + + + +
Hydrops fetalis + + + + + +
bilateral hydrothorax/ pleural effusion
+
+
+
+
ascites no + + + +
skin edema no + +
severe generalized edema/ anasarca no + + +
Hydronephrosis/ pyelectasis
no
+
*
Flattened facies no + +
Cardiac defect no no no no +
CNS malformations no no no no
Maternal Maternal Maternal Maternal Maternal Maternal Maternal Maternal
Polyhydramnios no + + +
Amnioreduction procedure
no
several
once
planned
HELLP syndrome/ preeclampsia/ Mirror syndrome
no
no
+
+
Fetal death (GA)
31+5 IUFD
30 IUFD 26+4 during labor
IUFD
IUFD
28+6 after CS
18
Fetal/child (postnatal) Fetal/child (postnatal) Fetal/child (postnatal) Fetal/child (postnatal) Fetal/child (postnatal) Fetal/child (postnatal) Fetal/child (postnatal) Fetal/child (postnatal)
High (birth) weight no >2.5 SD >10 SD
Hypertelorism + +
Low set ears no + no
Broad short webbed neck + + +
Other p *
Pathological examination NP NP + NP