Table 1.
Clinical characteristics of the two study fetuses and fetuses with fetal akinesia deformation sequence syndrome in the literature
|
Article |
1 |
2 |
3 |
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|
Fetus number |
2 |
5 |
11 |
|||||||||||||||
|
Nationality |
China |
Sweden |
The Netherlands |
|||||||||||||||
|
Molecular analysis |
c.220C >T
c.421delC |
c.40dupA, g.113 431 224 dupA |
c.1724T > C p.Ile575Thr |
|||||||||||||||
| Number | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 |
| GW at birth | 25 | 24 + 6 | 27 | 30 | 18 | 18 | 17 | 41 | 33 + 4 | 38 + 1 | 38 + 4 | 33 + 1 | 35 | 23 | 32 + 2 | 22 | 31 | 23 |
| Pregnancy outcome | TOP | TOP | Died | IUFD | TOP | TOP | TOP | Died <2 h | Died <1 h | Died 5 d | Died <1 h | IUFD | Died <1 h | TOP | Died <1 h | TOP | Died <2 h | TOP |
| Prenatal findings | ||||||||||||||||||
| Reduced/absent fetal movement | + | + | + | + | + | + | + | NA | NA | NA | - | + | NA | + | + | + | NA | + |
| Joint contractures | + | + | + | + | + | + | + | NA | NA | NA | NA | + | NA | + | + | + | NA | + |
| Polyhydramnios | + | + | + | + | - | - | - | NA | + | + | + | + | + | - | + | - | + | + |
| FGR | + | + | - | - | - | - | - | NA | + | - | - | - | - | - | + | - | - | - |
| Subcutaneous edema | + | + | + | + | - | - | - | NA | NA | NA | NA | - | NA | - | - | - | NA | - |
| Fetal stomach not visualized | + | + | + | + | + | + | + | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| Hydrothorax | - | - | + | + | - | - | - | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| Micrognathia | + | + | - | - | - | - | - | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| Postnatal findings | ||||||||||||||||||
| Birth weight | NA | 890 | NA | NA | NA | NA | NA | 2700 | 1870 | 3470 | 3250 | 1363 | 1910 | 551 | 1610 | 408 | 1250 | 490 |
| Sex of fetus | F | F | F | F | M | M | F | F | F | M | M | F | M | M | M | F | F | M |
| Flex hips | NA | + | + | + | + | + | - | + | + | - | + | + | - | + | + | + | NA | + |
| Hyperextended knees | NA | + | + | + | + | + | - | NA | + | - | + | + | - | + | + | - | NA | - |
| Flexed elbows | NA | + | + | + | + | + | + | NA | + | - | - | + | - | + | + | - | NA | - |
| Clenched fingers | NA | + | + | + | + | + | + | NA | + | + | + | + | + | + | + | + | NA | + |
| Club/rocker feet | NA | + | + | + | + | +1 | + | + | + | - | + | - | + | + | + | + | - | + |
| Low set ear | NA | + | + | + | - | - | + | NA | + | - | - | + | NA | + | + | + | + | - |
| Hypertelorism | NA | - | NA | NA | NA | NA | NA | NA | + | + | - | + | NA | + | + | + | - | + |
| Micrognathia | NA | + | + | - | + | + | + | + | - | + | - | + | - | + | + | + | - | + |
| Cleft palate | NA | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
| Edema | NA | + | + | - | - | - | + | NA | - | - | + | - | - | + | + | - | - | + |
| Pulmonary hypoplasia | NA | + | + | + | - | - | + | + | + | + | + | + | + | + | + | + | NA | + |
1
The fetus had feet deformity. +: Present; -: Absent. Pedigree 1: The two fetuses in our article. Pedigree 2: The five fetuses reported by Wilbe et al[4]. Pedigree 3: The 11 fetuses diagnosed with a c.1724T > C mutation reported by Tan-Sindhunata et al[5]. F: Female; M: Male; GW: Gestational week; NA: Not assessed; FGR: Fetal growth restriction; TOP: Termination of pregnancy; IUFD: Intrauterine fetal death.