Further anomalies in 47 CHD7 positive patients
| Pat. | Sex | Age at clinical evaluation | Gestation(weeks) | Birth weight(g) | Coloboma | Microphthalmia | Heart defect | Atresia of choanae | Height | Micropenis/cryptorchidism | External ear anomaly | Hearing loss | Vestibular dysfunction | Facial nerve palsy | Oesophageal fistula | Cleft lip | Cleft palate | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Left | Right | |||||||||||||||||
| * Deceased. | ||||||||||||||||||
| Coloboma: C; choroidea; I, iris; O, optic disc; R; retina. | ||||||||||||||||||
| Microphthalmia: L, left; R, right; U, unilateral, side not known. | ||||||||||||||||||
| Vestibular dysfunction: +: history of unsteadiness; ++: vestibular areflexia; +++: semicircular canal agenesis on CT scan of inner ear. | ||||||||||||||||||
| Pat., patient | ||||||||||||||||||
| 1 | F | 17 | 38 | 2450 | IRCO | IRCO | L/R | − | − | <P3 | + | + | ? | − | − | − | − | |
| 2 | F | 19 | 41 | 3520 | RC | RC | R | + | − | ? | + | + | ? | − | − | − | + | |
| 3 | F | 17 | 38 | 2435 | − | – | – | + | + | <P3 | + | − | +++ | − | − | − | − | |
| 4 | F | 6 | 32 | 1805 | – | – | − | + | − | <P3 | + | + | +++ | − | + | + | + | |
| 5 | F | 6 | 36 | ? | IRCO | IRCO | – | + | − | ? | + | ? | ? | − | − | + | + | |
| 6 | M | 10 | 38 | 3025 | – | – | – | − | − | P3 | + | + | + | +++ | + | − | − | + |
| 7 | F | 11 | 40 | 3350 | CRO | CRO | L/R | − | − | ? | + | + | +++ | − | − | − | + | |
| 8 | M | 7 | 39 | 2530 | CRO | O | L | − | − | <P3 | + | + | + | +++ | − | − | − | − |
| 9 | M | 4 | 39 | 3200 | – | – | – | − | − | >P10 | + | + | + | ? | − | − | + | + |
| 10 | M | <1 | 31 | 1650 | – | – | – | − | + | ? | + | + | + | +++ | − | − | − | − |
| 11 | F | <1 | 40 | 4082 | R | R | – | + | − | ? | + | + | ? | − | − | + | + | |
| 12 | M | Day 6* | 38 | 3060 | IRO | RO | – | + | − | ? | − | + | ? | ? | − | − | + | + |
| 13 | M | 32 | 37 | 2900 | – | – | – | − | + | <P3 | + | + | + | ? | − | − | − | − |
| 14 | F | 35 | ? | 3250 | C | – | L | + | + | <P3 | + | + | +++ | − | − | − | − | |
| 15 | F | 15 | 39 | 2910 | – | – | – | + | + | <P3 | + | + | ++ | − | − | − | − | |
| 16 | M | 19 | 42 | 3700 | IRC | IRC | – | − | − | P15 | + | + | + | ++ | − | − | − | − |
| 17 | M | 19 | 40 | 2870 | – | – | – | + | + | <P3 | + | + | + | + | − | − | − | − |
| 18 | M | Day 12* | 35 | 2250 | IO | O | – | + | + | ? | + | + | + | +++ | − | − | − | − |
| 19 | F | 5 | 40 | 3840 | RO | RO | – | + | − | <P3 | + | − | ? | − | − | + | + | |
| 20 | M | Month 5* | 38 | 3408 | – | – | – | + | + | ? | + | ? | ? | − | − | − | − | |
| 21 | M | 40 | 40 | 3250 | RO | RO | R | + | − | P10 | + | + | + | ? | + | + | − | − |
| 22 | F | 22 | 36 | 2000 | – | – | – | + | + | <P3 | + | + | +++ | − | + | − | − | |
| 23 | M | 19 | 42 | 2800 | IR | R | − | + | − | <P3 | + | + | + | +++ | − | − | + | + |
| 24 | F | Month 6* | 42 | 3450 | IR | IR | − | + | − | ? | + | + | ? | + | − | − | − | |
| 25 | M | 1 | 37 | 2940 | R | R | − | + | − | P50 | + | + | + | +++ | + | + | − | − |
| 26 | F | 11 | 35 | 1910 | RC | IRC | − | + | + | <P3 | + | + | + | − | − | − | − | |
| 27 | F | Day 2* | 35 | 1500 | – | – | – | + | + | ? | + | ? | ? | − | + | − | − | |
| 28 | F | 5 | 40 | 3700 | – | – | – | + | − | P3 | + | + | +++ | − | − | − | − | |
| 29 | M | 7 | 40 | 2867 | – | – | – | + | − | <P3 | + | + | − | ? | + | − | + | + |
| 30 | M | 3 | 38 | 3440 | RC | – | – | − | − | P3 | + | + | + | ? | − | + | − | − |
| 31 | M | Year 14* | ? | 3500 | RC | RC | – | − | − | <P3 | − | + | + | +++ | − | + | + | + |
| 32 | F | 12 | 41 | 2800 | IR | R | L | + | − | <P10 | + | + | +++ | + | − | − | − | |
| 33 | M | Week 5* | 30 | 1470 | RO | RO | U | − | + | ? | − | + | + | ? | − | + | − | − |
| 34 | M | 6 | 37 | 2700 | R | R | – | + | − | ? | − | + | + | ? | − | − | − | + |
| 35 | M | 6 | 35 | 2835 | O | R | R | + | − | <P3 | + | + | + | +++ | + | − | − | + |
| 36 | M | 20 | 40 | 2820 | R | R | – | − | + | <P3 | + | + | + | ? | − | − | + | − |
| 37 | M | <1 | 39 | 3114 | R | R | – | + | − | ? | + | + | ? | ? | − | − | − | − |
| 38 | F | Day 21* | 35 | 2393 | CRO | CRO | – | + | + | ? | + | ? | ? | − | − | − | − | |
| 39 | F | 3 | 40 | 3340 | CR | CR | – | + | − | <P3 | + | + | +++ | − | − | − | − | |
| 40 | M | 20 | 42 | 3490 | CR | CR | – | + | − | <P3 | + | + | + | + | − | − | + | + |
| 41 | F | 10 | 37 | 2650 | – | – | – | + | + | <P3 | + | + | +++ | − | − | − | − | |
| 42 | F | <1 | 41 | 2830 | CO | O | – | + | − | ? | + | + | ? | + | − | − | − | |
| 43 | F | 26 | 40 | 2450 | R | – | − | + | − | <P3 | + | + | +++ | + | − | − | − | |
| 44 | F | 20 | 36 | 2450 | CRO | CRO | – | − | + | ? | + | + | +++ | + | − | + | + | |
| Missense mutations | ||||||||||||||||||
| 45 | F | 15 | 38 | 2980 | O | O | L/R | − | − | <P3 | + | + | +++ | − | − | − | − | |
| 46 | F | 15 | 41 | 2500 | C | C | – | − | − | P10 | + | + | +++ | − | − | − | − | |
| 47 | F | 16 | 40 | 2100 | C | – | – | − | + | P3 | + | − | + | − | − | − | − | |