McCredie and Reid [(1978): J Pediatr 92: 762-765] described an association of diaphragmatic hernia and upper limb deficiencies. Lerone et al. [(1992): Am J Med Genet 44:827-829] recently described a new case with this combination. We present an epidemiological study using two analytic methods with data from the Spanish Collaborative Study of Congenital Malformations (ECEMC). The results support the suggestion that the concurrence of these two congenital anomalies constitutes a polytopic primary developmental field defect.