Table III.
Nonsyndromic group (n = 112) | Syndromic group (n = 56) | 22q11DS reference group (n = 39) | P value (nonsyndromic vs syndromic groups) | |
---|---|---|---|---|
Musculoskeletal anomaly | 7 (6%) | 7 (13%) | 6 (15%) | .17 |
Major musculoskeletal anomaly* | 5 (4%) | 5 (9%) | 4 (10%) | .25 |
Scoliosis requiring surgery | 2 (2%) | 3 (5%) | 2 (5%) | .34 |
Genitourinary anomaly | 9 (8%) | 6 (11%) | 4 (10%) | .57 |
Renal† | 7 (6%) | 4 (7%) | 3 (8%) | 1.00 |
Genital‡ | 2 (2%) | 3 (5%) | 2 (5%) | .34 |
Gastrointestinal anomaly§ | 0 | 2 (4%) | 3 (8%) | .11 |
Ear anomaly|| | 0 | 2 (4%) | 1 (3%) | .11 |
Central nervous system anomaly¶ | 1 (1%) | 2 (4%) | 3 (8%) | .26 |
Major musculoskeletal anomalies were polydactyly, bifid terminal phalanx of thumb, digitalized thumb, club foot, hemi and butterfly vertebrae, and dysplastic ribs.
Renal anomalies were renal agenesis, horseshoe kidney, ectopic kidney, collecting duct anomaly, and congenital hydronephrosis.
Genital anomalies were undescended testes, hypospadias, chordee, and bicornuate uterus.
Gastrointestinal anomalies included esophageal atresia, anal atresia/stenosis, pyloric stenosis, and Meckel diverticulum.
Major ear anomalies included absent left ear lobe, absent left external ear canal, and congenital lop ear deformity.
Central nervous system anomalies included spina bifida, hydrocephaly, hypoplastic pituitary gland, and diffuse cerebral and cerebellar atrophy.