From: Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome
Case | GA at presentation | Gender | IUGRa | Head/Face | Urogenital | Abdomen | Heart/thorax | Other |
---|---|---|---|---|---|---|---|---|
1 | 17 + 5 | M | No | Cleft lip/palate, plexus cysts | ||||
2 | 28 + 1 | F | Yes | Microcephaly, hypoplastic NB | Indifferent genitalia | Dilated colon | SUA | |
3 | 24 + 0 | F | Yes | Hypoplastic NB | Dystopic kidneys, oligohydramnios | CDH | Placentomegaly | |
4 | 21 + 0 | F | Yes | Microcephaly, cleft lip/palate, micro-/retrognathia | Hypoplastic kidneys | Overlapping fingers | ||
5 | 26 + 6 | F | Yes | Microcephaly, hypoplastic NB | ||||
6 | 23 + 6 | F | Yes | Microcephaly, hypoplastic NB | Hyperechogenic bowel, ascites | Hydrothorax, cardiomegaly, VSD | ||
7 | 24 + 1 | M | Yes | Microcephaly, hypoplastic NB | Hydronephrosis, oligohydramnios | Hyperechogenic bowel | SUA, talipes | |
8 | 21 + 3 | M | Yes | Microcephaly, hypoplastic NB (Fig. 1c) | Double bubble sign | |||
9 | 26 + 3 | F | Yes | Microcephaly, hypoplastic NB | White spot | |||
10 | 29 + 4 | M | Yes | Microcephaly, hypoplastic N, micro-/retrognathia | Hypospadias | severe CoA | SUA | |
11 | 23 + 0 | F | Yes | Microcephaly, cleft lip/palate, hypoplastic NB, PHPV (Fig. 1d), micro-/retrognathia | Oligohydramnios | |||
12 | 23 + 1 | F | Yes | Microcephaly, micro-/retrognathia, hypoplastic NB | Bladder exstrophy, hyperechogenic kidneys | Small omphalocele | ARSA | SUA |
13 | 23 + 4 | F | Yes | Cleft lip/palate, microophthalmia, dysgenesis of the CC | VSD | SUA | ||
14 | 13 + 4 | M | No | Hypoplastic NB, hypertelorism, micro-/retrognathia | RAA, VSD | SUA | ||
15 | 21 + 3 | F | Yes | Microcephaly | TAC, VSD | SUA | ||
16 | 18 + 1 | F | No | Hypoplastic NB | RAA, ARSA | Tethered cord, talipes equinovarus | ||
17 | 24 + 2 | F | Yes | Microcephaly, hypoplastic NB | ||||
18 | 25 + 3 | F | Yes | Microcephaly, hypoplastic NB; deformed ears with multiple preauricular appendages on the right side; cleft of the soft palate | ARSA | SUA, overlapping fingers and toes |