TABLE 2.
Imaging and other features with cerebellar malformations (N = 12 proband twins)
| Brain imaging features |
Other features |
|||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Subject ID | DWM | CBLHa | CLEFTb | ASYM | BSH | LAT | ART | Sex | IUFD | ZYG | TTTS | FIGS |
| CBLH only | ||||||||||||
| LR03-055c | − | + | − | + | − | R | M | − | DZ | |||
| LR03-278 | + | − | − | − | − | S | M | − | UZ | |||
| LR03-298 | + | − | − | − | − | S | M | − | MZ | |||
| LR04-239 | − | + | − | − | + | R | M | − | DZ | |||
| LR05-035 | + | − | − | + | − | S | M | − | MZ | + | ||
| LR05-398 | − | + | − | − | − | S | M | − | MZ | + | 10E–H | |
| LR12-032 | − | + | − | − | − | S | F | − | DZ | |||
| LR12-308 | + | − | − | + | − | L | F | − | MZ | + | 10I–L | |
| LR12-410d | − | + | + | − | − | S | IVF | M | − | UZ | 10A–D | |
| LR12-475 | + | − | − | + | − | L | M | − | DZ | 10 M–P | ||
| LR14-098 | + | − | − | − | − | S | IVF | F | − | DZ | ||
| LR18-080 | − | + | − | − | − | S | IVF | F | − | DZ | − | |
| PROBANDS | 6 | 6 | 1 | 4 | 1 | 8M/4F | 0 | 6DZ-4MZ-2UZ | ||||
|
| ||||||||||||
| Affected sib | ||||||||||||
| LR14-018a2 | − | + | − | − | − | S | IVF | M | − | DZ | ||
|
| ||||||||||||
| MCD + CBLH from Table 1 | ||||||||||||
| LR09-420a1e | − | + | − | − | − | R | F | − | DZ | |||
| LR09-420a2e | − | + | − | + | − | L | M | − | DZ | |||
| LR10-042e | − | + | − | − | − | S | F | − | UZ | |||
| LR10-101e | − | + | − | + | − | L | M | − | DZ | |||
| LR12-313a2e | + | − | − | + | − | R | M | − | MZ | |||
| LR20-095e | − | + | − | − | − | S | M | − | DZ | |||
|
| ||||||||||||
| TOTAL | 7 | 12 | 1 | 7 | 1 | 0 | ||||||
Abbreviations: ART, assisted reproductive technology; ASYM, asymmetry of cerebellar hemispheres; BSH, brainstem hypoplasia; CBLH, cerebellar hypoplasia; CLEFT, cleft in cerebellum from surface to central white matter; DWM, Dandy-Walker malformation; DZ, dizygotic; F, female; FIGS, figures; IUFD, intrauterine fetal demise; IVF, in vitro fertilization; L, more severe on left; LAT, laterality; M, male; MZ, monozygotic; R, more severe on right; S, symmetric; TTTS, twin-twin transfusion syndrome; UZ, unknown zygosity; ZYG, zygosity.
CBLH includes diffuse CBLH, vermis predominant CBLH, and CBLH with mega-cisterna magna.
This group refers only to cerebellar clefts.
Born at 22.5 wkg (ELGAN), another potential cause of the CBLH.
Only surviving triplet born at 25–26 wkg (ELGAN).
Twins with malformations of cortical development (MCD) and cerebellar malformations were included as probands or sibs in Table 1.