MKKS and congenital heart malformation: Vaginal atresia is observed in several syndromes, notably Winter syndrome (renal, genital, and middle ear anomalies, OMIM #267400) and McKusick–Kaufman syndrome (hydrometrocolpos, postaxial polydactyly, congenital heart malformations, OMIM #236700), caused by mutations in MKKS on chromosome 20p12 [3,10].