1. Etiology

• unknown
• injury between 4-6 weeks to a specific mesodermal area may produce simultaneous anomalies of the hindgut, lower vertebral column, lower urinary tract, and developing kidney
• malformations are widely distributed with:
  • 2/3 rd's in the lower body segment
    • distal gastrointestinal (GI) and genitourinary (GU) tracts, lumbosacrococcygeal vertebrae, pelvis, lower limbs
  • 1/3 rd in the upper body segment
    • esophageal atresia +/- TEF, radial limb anomalies, heart, proximal GI tract, rib anomalies, respiratory tract anomalies
• there are an average of 7-8 abnormalities per patient
• minimal CNS anomalies with only occasional mental retardation

1. Major Features

• Vertebral dysgenesis (70%)
• Anal atresia (imperforate anus) +/- fistula (80%)
• Cardiac anomalies - VSD (53%)
• T-E fistula (TEF)+/- esophageal atresia (70%)
• Renal anomalies (53%)
• Limb anomalies - radial dysplasia, thumb or radial hypoplasia, preaxial polydactyly, syndactyly (65%)

2. Neonatal Anomalies

• single umbilical artery
• prenatal growth deficiency

1. Imaging Studies

• vertebrae, GU, GI, renal, skeletal, cardiac

1. Supportive

• prognosis and management depends upon the extent and severity of the anomalies

2. Surgery

• surgical correction of the anomalies