Clinical and FISH findings in patients with syndromic oesophageal atresia
| Case | Sex | Age (y) | Oesophageal atresia (type) | Facial anomalies | Vertebral anomalies | Cardiac defect |
|---|---|---|---|---|---|---|
| 1 | F | 0.1 | III | Prominent nose, small mouth, dysmorphic ears | − | TF |
| 2 | M | III | − | + | Dextrocardia | |
| 3 | M | 0.1 | III | − | − | − |
| 4 | F | 2.9 | III | Epicanthic folds, dysmorphic ears | + | TF |
| 5 | M | 0.1 | III | − | − | ASD, dextrocardia |
| 6 | F | 0.1 | III | Dysmorphic ears, preauricular pits | − | − |
| 7 | M | 1 | III | − | − | TF |
| 8 | M | 0.2 | I | Downward slanted palpebral fissures, dysmorphic ears | − | TF |
| 9 | M | 0.1 | III | Otodysplasia, preauricular pits | − | − |
| 10 | F | 0.1 | III | − | − | − |
| 11 | M | 0.4 | III | − | − | − |
| 12 | M | 9.7 | I | Hypertelorism, small mouth, everted ears | − | ASD |
| 13 | F | 1 | III | Epicanthic folds, flat nasal bridge | − | Congenitally corrected TGA in situs inversus |
| 14 | F | 0.1 | III | − | − | − |
| 15 | F | 10.8 | III | − | − | ASD |
| Anal atresia | Radial anomalies | Renal/urinary anomalies | Ocular anomalies | Cleft palate | Choanal atresia | Hypo- calcaemia | Low T lymphocytes | Diagnosis | Del22 |
|---|---|---|---|---|---|---|---|---|---|
| + | − | − | − | − | − | + | + | VCFS | + |
| − | + | Hypoplastic right kidney | − | − | − | − | − | VACTERL | − |
| + | − | Double urethra | − | − | − | − | − | VACTERL | − |
| + | − | − | − | − | − | + | − | VACTERL | − |
| + | − | − | − | − | − | − | NV | VACTERL | − |
| + | − | Pyelic ectasia | − | − | − | − | NV | VACTERL | − |
| − | + | − | − | − | − | − | − | VACTERL | − |
| − | − | − | Left micro- phthalmia, coloboma | − | − | + | − | CHARGE | − |
| − | − | − | − | + | + | NV | NV | Goldenhar syndrome | − |
| − | − | − | − | − | + | − | − | MCA | − |
| + | − | − | − | − | + | NV | NV | MCA | − |
| − | − | − | − | − | − | − | − | MCA | − |
| − | − | − | − | − | − | − | − | MCA | − |
| − | − | − | − | − | + | NV | NV | MCA | − |
| − | − | − | − | − | − | − | − | MCA | − |
FISH = fluorescent in situ hybridisation, P = patient, Del22 = deletion 22q11, F = female, TF = tetralogy of Fallot, VCFS = velocardiofacial syndrome, M = male, ASD= atrial septal defect, NV = not valuable, VSD = ventricular septal defect, MCA = multiple congenital abnormalities, TGA = transposition of the great arteries