Perineal groove is a rare anoperineal congenital malformation disease that usually affects newborn females. It is unknown to many clinicians, which usually leads to misdiagnosis. The pathogenesis of perineal groove is not clear, and there are few cases reported in the current medical literature. Perineal grooves in two newborn babies were described in this report, and the literature on perineal groove was also reviewed and analyzed to improve the recognition of this disease.