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 |