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Table 1 Major clinical features of the acro-cardio-facial syndrome

From: Acro-cardio-facial syndrome

Clinical finding

References

Total %

 

1

2a

2b

3

4

5a

5b

6

7

  

Sex

M

M

F

M

M

M

F

F

M

6 M/3F

 

Facial anomalies

+

+

+

+

+

+

+

+

+

9/9

100

High forehead

-

+

NK

-

+

+

+

NK

+

5/7

71

Prominent eyes

-

-

NK

+

+

-

-

NK

-

2/7

29

Long eyelashes

+

-

NK

+

+

-

-

NK

-

3/7

43

Hypertelorism

-

-

NK

+

+

+

+

NK

+

5/7

71

Broad/flat nasal root

+

+

NK

+

+

-

-

NK

+

5/7

71

Cleft lip

+

-

-

+

-

-

-

-

+

3/9

33

Cleft palate

+

-

+

+

-

-

NK

+

+

5/8

63

Low-set dysmorphic ears

+

+

NK

+

+

+

+

+

+

8/8

100

Limb anomalies

+

+

+

+

+

+

+

+

+

9/9

100

Cleft hand (bilateral)

+

+

+

+

-

+

+

+

-

7/9

78

Cleft hand (unilateral)

-

-

-

-

+

-

-

-

+

2/9

22

Cleft foot (bilateral)

+

-

-

-

-

-

+

-

-

2/9

22

Cleft foot (unilateral)

-

-

-

-

+

-

-

-

-

1/9

11

Congenital heart defect

+

+

-

+

+

-

-

+

+

6/9

67

Ventricular septal defect

+

+

-

-

-

-

-

+

-

3/9

33

Atrial septal defect

-

+

-

-

-

-

-

+

-

2/9

22

Aortic coarctation

-

+

-

+

-

-

-

-

-

2/9

22

Mitral atresia

-

+

-

-

-

-

-

-

-

1/9

11

Truncus arteriosus

-

-

-

-

+

-

-

-

-

1/9

11

Tetralogy of Fallot

-

-

-

-

-

-

-

-

+

1/9

11

Absent left pulmonary artery

-

-

-

-

-

-

-

-

+

1/9

11

Genital anomalies

+

+

NA

-

+

+

NA

NA

+

5/6

83

Micropenis

+

+

NA

-

-

+

NA

NA

+

4/6

67

Cryptorchidism

+

+

NA

-

+

+

NA

NA

-

4/6

67

Hypospadia

+

+

NA

-

-

+

NA

NA

-

3/6

50

Low birth weight (< 3rd centile)

-

+

+

-

-

+

+

-

+

5/9

56

Growth retardation

+

+

NA

+

+

-

NA

NK

+

5/6

83

Neurological anomalies

+

+

NK

+

+

-

NK

+

+

6/7

86

Mental retardation

+

+

NK

+

+

-

NK

NK

+

5/6

83

Hypotonia/Hypertonia

+

+

NK

-

+

-

NK

NK

-

3/6

50

Cortical brain atrophy

+

-

-

+

NK

NK

NK

-

NK

2/5

40

Neuropepithelial cyst

-

-

-

-

NK

NK

NK

+

NK

1/5

20

Dead/Alive

Alive

Dead

Dead

Dead

Dead

Alive

Dead

Dead

Dead

  

Age

4 y

1 m

6 h

4 m

1 m

25 y

4d

50 d

14 y

  
  1. References: 1, Richieri-Costa and Orquizas, 1987 [1]; 2, Giannotti et al., 1995 [2]; 3, Guion-Almeida et al., 2000 [3]; 4, Mingarelli et al., 2005 [4]; 5, Sivasli et al., 2007 [5]; 6, Kariminejad et al., 2008 [6]; 7, Tanpaiboon et al., 2009 [7]
  2. Abbreviations: M, Male; F, female; NK, not known; NA, not applicable; y, years; m, months; h, hours; d, days