OBJECTIVE To evaluate the association between large for gestational age (LGA) and demographic and medical risk factors as well as specific types of congenital anomalies. METHODS A retrospective, case-control study on 2,149,617 consecutive births was conducted. LGA was defined as 1.64 SD above the mean weight for gestational age, adjusted by sex and altitude. Risk factor frequency distributions were compared between LGA and normal birth weight neonates. Associations between LGA and 41 infants with isolated congenital anomalies were evaluated. RESULTS Of 31,897 neonates with congenital anomalies, 1800 were LGA. Five anomalies were associated with LGA: talipes calcaneovalgus, hydrocephaly, combined angiomatoses, hip subluxation, and non-brown-pigmented nevi. Multiparity, vaginal bleeding, diabetes, and delivery by cesarean section were more frequent in LGA than in appropriate for gestational age infants' mothers. Several maternal but no paternal factors were statistically associated with an increased risk for LGA infants. CONCLUSIONS The clinical observation that nevi are more commonly observed in LGA patients was supported. The higher frequencies of hip subluxation and talipes calcaneovalgus among LGA neonates reinforces their pathogenesis as deformations, whereas those of combined angiomatoses and hydrocephaly could reflect increased fluid or body mass.