Table 2.
Features of ALGS at Enrollment
Disease Features | n | Count (%) |
---|---|---|
Cardiac | ||
Peripheral pulmonary stenosis | 263 | 194 (74%) |
Pulmonary valve stenosis | 247 | 34 (13%) |
Tetralogy of fallot | 251 | 16 (6%) |
Ventricular septal defect | 249 | 33 (13%) |
Atrial septal defect | 246 | 32 (13%) |
Other cardiac anomaly | 276 | 92 (33%) |
Facies | ||
Deep‐set eyes | 265 | 209 (79%) |
Broad forehead | 273 | 240 (88%) |
Pointed chin | 269 | 238 (88%) |
Eyes | ||
Posterior embryotoxon | 263 | 114 (43%) |
Axenfeld’s anomaly | 244 | 3 (1%) |
Other eye condition | 260 | 15 (6%) |
Skeletal | ||
Butterfly vertebrae | 268 | 104 (39%) |
Other skeletal condition | 269 | 11 (4%) |
Renal | ||
Dysplastic kidney | 265 | 10 (4%) |
Single kidney | 264 | 3 (1%) |
Renal tubular acidosis | 261 | 24 (9%) |
Other renal structural anomaly | 264 | 34 (13%) |