Skip to main content
. Author manuscript; available in PMC: 2015 Mar 9.
Published in final edited form as: Am J Med Genet A. 2013 Dec 19;0(2):432–440. doi: 10.1002/ajmg.a.36324

TABLE I.

Co-Occurring Defects Among Cases With Spina Bifida, Slone Birth Defects Study, 1976–2011

n % n %
Midline defects (n = 146) Genital defects (n = 34)
 Brain reduction defects 73 50.0  Undescended testicles >37 weeks gestation 11 32.4
 Imperforate anus 22 15.1  Ambiguous genitalia 10 29.4
 Cloacal exstrophy 13 8.9  Cervix/vagina/clitoris anomalies 5 14.7
 Orofacial clefts 12 8.2  Hypospadias ± chordee 5 14.7
 Omphalocele 12 8.2  Uterus/ovary anomalies 3 8.8
 Bladder exstrophy 12 8.2  Rectovaginal fistula 2 5.9
 Microcephaly 9 6.2  Epispadias 2 5.9
 Hypospadias/epispadias 7 4.8  Micropenis 1 2.9
 Diaphragmatic hernia 7 4.8 Heart defects (n = 34)
 Double outlet right venticle 4 2.7  VSD—other/NOS 15 44.1
 Tracheoesophageal fistula ± esophageal atresia 4 2.7  VSD—muscular 5 14.7
 OEIS 4 2.7  Double outlet right ventricle 4 11.8
 Caudal regression 3 2.1  VSD—perimembranous 3 8.8
 Truncus arteriosus 2 1.4  Other heart anomalies 3 8.8
 Tetralogy of fallot 2 1.4  Truncus arteriosus 2 5.9
 Ectopia cordis 1 0.7  Tetralogy of fallot 2 5.9
Renal defects (n = 42)  Pulmonary valve atresia/stenosis 2 5.9
 Kidney agenesis (unilat.) 14 33.3  Dextrocardia 2 5.9
 Horseshoe kidney 7 16.7  Other valve anomalies 2 5.9
 Double collecting system 5 11.9  Double outlet left ventricle 1 2.9
 Ectopic kidney 4 9.5  Ostiumprimum ASD 1 2.9
 Multicystic kidney type II 3 7.1  Common AV canal 1 2.9
 Kidney agenesis (NOS) 2 4.8  Aortic valve stenosis 1 2.9
 Kidney dysplasia (unilat.) 1 2.4  Hypoplastic L ventricle 1 2.9
 Kidney agenesis (bilat.) 1 2.4  R ventricular hypertrophy 1 2.9
 Polycystic kidneys 1 2.4  Coarctation of aorta 1 2.9
 Accessory kidney 1 2.4  Right aortic arch 1 2.9
 Absent ureter 1 2.4  Persistent L superior vena cava 1 2.9
 Absent bladder/urethra 1 2.4  Anomalous pulmonary venous return 1 2.9
 Prune belly syndrome 1 2.4
 Kidney dysplasia (bilat.) 1 2.4

OEIS, omphalocele, exstrophy, imperforate anus, and spina bifida.