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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