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Table 1 Demographics and systemic features of CCDDs patients

From: Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders

 

CFEOM

DRS

MBS

HGPPS

Total

No. of patients/families

89/66

11/8

17/17

5/5

122/96

Sex

     

 Males

48/89 (53.9%)

6/11 (54.5%)

8/17 (47.1%)

3/5 (60%)

65/122 (53.3%)

 Female

41/89 (46.1%)

5/11 (45.5%)

9/17 (52.9%)

2/5 (40%)

57/122 (46,7%)

No. of pedigrees

22

2

0

0

24

Sporadic cases

44

6

17

5

72

MRI (performed)

     

 No. of patients

64

10

16

4

94

Multiple malformations*

17

7

17

5

46

Craniocerebral malformation

9

1

1

4

15

  1. *Multiple malformations contain craniocerebral malformation and other systemic malformations