An 8-year-old child presented for a routine physical examination. Poor growth and developmental delay had been present since early infancy. She had congenital absence of the right radius. A vaginal orifice was not present on inspection of her genitalia.
Congenital agenesis of the vagina was first described by Mayer in 1829. Rokitansky, in 1838, and Küster, in 1910, expanded the definition of this entity by noting the association of a rudimentary, bipartite uterus, and normal ovaries with vaginal atresia. The frequent association of renal and skeletal anomalies with these genital abnormalities was reported by Hauser in 1961.1