Table 2.

Fifty-four congenital abnormalities were reported in 40 children. The congenital anomalies from the proband case with VACTERL (child 19 in Table 1) have not been included in this table.

Congenital Anomaly	No. of Reports	Incidence in Live births	Poisson probability; cumulative Poisson probability	p
Congenital heart disease^*^†	4	4–5/1000³⁸	0.0961; 0.1847	0.81
Pulmonary^†	3	1.9/10,000³⁹	0.0026; 0.9976	< 0.0001^††
Malformation^†
Cystic kidney^†	3	1/4000⁴⁰	0.0048; 0.9995	< 0.0001^††
Teratoma	3	1/4000⁴¹	0.0048; 0.9995	< 0.0001^††
Ventricular septal defect^†	2	12.1/10,000³⁹	0.2614; 0.7703	0.47
Atrial septal defect^†	2	2.5/10,000³⁹	0.0419; 0.9947	0.0005^††
Tracheal stenosis^†	2	1/50,000⁴²	0.0004; 0.9999	< 0.00001^††
Hypospadias	2	18.4/10,000⁴³	0.2124; 0.7639	0.26
Trisomy 21	2	1/600⁴⁴	0.264; 0.5881	0.79
Hydrocele	2	9.9/1000⁴⁵	0.0001; 0.0001	0.01
Cystic hygroma	1	5.1/10,000⁴⁶	0.3496; 0.8393	0.49
Duane’s syndrome	1	1–5% with strabismus⁴⁷	0.0048; 0.9998	0.0007^††
Talipes^†	1	0.5–7/1000⁴⁸	0.0629; 0.0779	0.18
Ventricular hypokinesia^†	1	5–8/100,000⁴⁹	0.0814; 0.9962	0.0001^††
Cleft palate	1	5.2/10,000³⁹	0.3457; 0.8485	0.51
Trisomy 18^†	1	1/5000⁵⁰	0.2088; 0.9685	0.07
Limb malformation^†	1	1/10,000⁵¹	0.1198; 0.9918	0.004
Anencephaly	1	3.6/10,000³⁹	0.3017; 0.9113	0.29
Single functional kidney^†	1	1/1000⁵²	0.3476; 0.6005	0.98
Tetralopgy of Fallot^†	1	1/10,000³⁹	0.1198; 0.9918	0.004
Strabismus^†	1	2.5/1000⁵³	0.1103; 0.1424	0.32
Arterial malformation^†	1	1.1/10,000³⁹	0.1298; 0.9897	0.004
Megacolon	1	1/5000⁵⁴	0.2088; 0.9685	0.07
Intestinal malformation^†	1	4.5/1000⁴³	0.0127; 0.0147	0.10
Optic neuropathy	1	1/16,000⁵⁵	0.0789; 0.9965	0.0002^††
Skeletal dysplasia^†	1	3.5/10,000³⁹	0.2973; 0.9155	0.27
Spinal disorder^†	1	3/1000⁵⁶	0.0667; 0.0828	0.25
Congenital cataracts	1	3,10,000⁵⁷	0.2731; 0.9351	0.08
Congenital hearing	1	1/2000⁵⁸	0.3457; 0.8485	0.48
Disorder
Blindness	1	3/10000⁵⁹	0.2731; 0.9351	0.20
Laryngeal obstruction^†	1	1/10000⁶⁰	0.1198; 0.9914	0.004
“Collagen disorder”	1	?
“Aneurysm”	1	?
“Furuncle”	1	?
Not specified	5
Total	54

↵* The heading “congenital heart disease” does not include the other separate heart defects listed on this table (ventricular septal defect, atrial septal defect, ventricular hypokinesia, tetralogy of Fallot).
↵† Anomalies associated with VACTERL.
↵†† Statistically significant (p < 0.001).