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Table 3 Comparison of pre- and postnatal findings in Wolf-Hirschhorn syndrome

From: Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome

 

This study

Zhen et al., 2018

Xing et al., 2018

Xing et al., 2018 (rev.)

Sifakis et al., 2013b

Prenatal

(prev. studies)

Prenatal (all)

Postnatala

All

n = 18

%

n = 10

n = 10

n = 37

n = 8

n = 65

%

n = 83

%

 

IUGR

15

83.3

5

10

33

5

53

81.5

68

81.9

 > 75%

Microcephalyd

13

72.2

-

-

-

3

3

4.6

16

19.3

 > 75%

Oligo-/Anhydramnios

3

16.7

4

-

2

4

10

15.4

13

15.7

n/a

NT > 95. percentile

1

5.6

2

6

3

1

12

18.5

13

15.7

n/a

Cystic hygroma

0

0.0

1

2

4

1

8

12.3

8

9.6

n/a

Facial anomalies (all):

17

94.4

-

7e

33e

1e

41

63.1

58

69.9

 > 75%

- Absent/hypoplastic NBc

13

72.2

-

5

1

0

6

9.2

19

22.9

n/a

- Cleft lip / palate

5

27.8

1

1

11

2

15

23.1

20

24.1

25–50%

- Retro-/Micrognathia

5

27.8

-

-

1

-

1

1.5

6

7.2

 > 75%

- An-/Microophthalmia

1

5.6

-

-

-

-

-

-

1

1.2

n/a

- Hypertelorism

1

5.6

-

-

2

-

2

3.1

3

3.6

 > 75%

- PHPV

1

5.6

-

-

-

-

-

-

1

1.2

n/a

Cerebral anomalies

3

16.7

-

5

7

4

16

24.6

19

22.9

25–50%

Cardiac anomalies

9

50.0

-

5

9

2

16

24.6

25

30.1

25–50%

Thoracic defects

2

11.1

-

-

9

1

10

15.4

12

14.5

 < 25%

Abdominal anomalies

5

27.8

-

-

5

0

5

7.7

10

12.0

 < 25%

SUA

8

44.4

-

-

1

2

3

4.6

11

13.3

n/a

Urogenital anomalies

6

33.3

2

3

18

2

25

38.5

31

37.3

25–50%

Skeletal anomalies

4

22.2

-

1

9

3

13

20.0

17

20.5

50–75%

TOP/stillborn

16

88.9

10

9

-

7

26

40.0

42

50.6

n/a

Live-births

2

11.1

0

1

-

1

2

3.1

4

4.8

n/a

  1. Abbreviations (in alphabetical order): AF amniotic fluid, IUGR intrauterine growth restriction, n/a = no answer; NB nasal bone, NT nuchal translucency; PHPV persistent hyperplastic primary vitreous, rev. reviewed, SUA single umbilical artery, TOP termination of pregnancy
  2. a according to Battaglia et al., 2015
  3. b 2 own cases + 6 cases reviewed and not included by Xing et al., 2018
  4. c according to Sonek et al., 2003;
  5. d defined as head circumference < 5. Percentile
  6. e described only as “typical facial appearance” or “greek helmet facial profile”