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Table 1 Ultrasonographic findings in 18 pregnancies complicated by Wolf-Hirschhorn syndrome

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

  1. Abbreviations (in alphabetical order): ARSA aberrant right subclavian artery, CC corpus callosum, CDH congenital diaphragmatic hernia, CoA coarctation of the aorta, F female, GA gestational age, IUGR intrauterine growth restriction, M male, NB nasal bone, PHPV Persistent hyperplastic primary vitreous, RAA right aortic arch, SUA singular umbilical artery, TAC truncus arteriosus communis, VSD ventricular septum defect
  2. a according to prenatal ultrasound estimation of fetal weight