Table 1 Clinical manifestations of eight patients with Kabuki syndrome

General Information

Gender

M

M

F

M

F

M

M

M

Age of diagnosis

7 y

3 y

8 y

8 mo

2 y

9 y

4 y 11 m

4 y 1 m

Age at follow-up

8 y

4 y

3 y

5 y 6 m

Typical craniofacial abnormality

High/sparse eyebrows

+

+

+

+

+

+

+

+

100.0%

85%

Long palpebral fissures

+

+

+

+

+

+

+

+

100.0%

99%

Blue sclera

-

+

+

+

+

-

+

71.4%

31%

Strabismus

-

-

-

-

-

-

+

-

12.5%

36%

Ptosis

-

-

-

-

-

-

-

-

0.0%

50%

Large ears

+

+

+

+

+

+

+

+

100.0%

84%

Depressed nasal tip

+

+

+

+

+

+

+

+

100.0%

83%

Micrognathia

-

+

-

+

+

+

66.7%

40%

Abnormal dentition

-

-

+

+

50.0%

68%

skeletal abnormality

Clinodactyly of the 5th finger

+

+

-

+

-

-

-

+

50.0%

50%

Hip dislocation

+

-

-

-

-

-

-

14.3%

18%

Hyperlaxity

+

-

-

-

-

-

+

28.6%

74%

Scoliosis/vertebral malformation

+

-

-

-

-

-

-

-

12.5%

32%

Dermatoglyphic abnormalities

Fingertip pads

+

+

+

+

+

+

+

+

100.0%

89%

Cerebral abnormality

Mental retardation

+

+

+

+

+

+

-

+

87.5%

84%

Hypotonia

-

-

-

-

-

-

-

+

12.5%

68%

Seizures

-

-

+

-

+

-

-

-

25%

17%

Head circumference at initial outpatient diagnosis (cm)

51

46.7

50

42.5

42

49.8

49

46.7

Microcephaly

-

-

-

-

+

-

-

+

25%

26%

Postnatal growth

Weight at birth (g)

3250

2500

2650

2950

2000

Body length at birth (cm)

50

48

49

Weight at initial outpatient diagnosis (kg)

26

13

7

20

14

11

Height at initial outpatient diagnosis (cm)

121

101

107

99

86

Weight at follow-up (kg)

27

15

12

Height at follow-up (cm)

125

102

96

98

Postnatal growth retardation

-

-

-

+

+

-

33.3%

55%

Feeding difficulties

+

-

-

-

-

-

-

-

12.5%

Other common symptoms

Frequent infections

+

+

-

-

+

-

+

+

62.5%

60%

Cardiac anomalies

-

-

-

-

+

-

+

+

37.5%

42%

+

+