We report a female infant of 42 weeks gestation with a left sided diaphragmatic hernia and a hypoplastic left heart. A true double vagina, absent uterus and abnormal male gonads were found in the presence of normal external female genitalia. Conventional G band karyotyping of skin samples revealed a normal male karyotype. The aetiology and inheritance are unknown. We believe this to be the fifth reported case of a recognizable syndrome first reported by Meacham [(1991). Am J Med Genet 41:478-481].