Malformed Female Genitalia in Newborns With the Vater Association

Urorectal septum malformation sequence: Report of thirteen additional cases and review of the literature

“…Using the criteria of absence of perineal and anal openings, we reviewed the literature and found 49 cases that met our criteria for the URSM sequence (Table II) [Major, 1929;Meyer, 1941;Kirshbaum, 1950;Currarino, 1970;Rabinowitz et al, 1971;Fitch and Artinian, 1973;Baden et al, 1974;Sofatzis, et al, 1983;Robinson and Tross, 1984;Wenstrup and Pagon, 1985;Gardner and Nelson, 1986;Lande and Hamilton, 1986;Escobar et al, 1987;Lage et al, 1987;Gilbert et al, 1990;Lin, 1991;Currarino and Weinberg, 1991;Fryd- , 1993;Pauli, 1994;Parida et al, 1995]. A common anomaly in most of the cases reviewed in the literature was ambiguous genitalia.…”

“…Tracheoesophageal fistula with esophageal atresia was found in 11 of 62 patients. Two of these cases were diagnosed as VATER association secondary to the tracheoesophageal fistula, vertebral, anal, and renal anomalies [Sofatzis et al, 1983].…”

Is urorectal septum malformation sequence a variant of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association? Report of a case and a review of the literature

“…This may reflect the lesser prominence of genital anomalies in VATER compared to other anomalies described with this association. The most common anomalies of the genitalia reported in this limited amount of literature were cryptorchidism, hypospadias, and bifid or shawl scrotum in males, and hypoplastic labia and vaginal atresia in females [1,4,21,22]. These anomalies are markedly different and not as severe as those of URSMS, such as aphallia in males and phallus-like structures in females.…”

“…Although, Escobar et al [7] and Wheeler et al [24] consider URSMS distinct from the VATER association, several patients with typical URSMS characteristics have been reported as VATER association in the literature [1,11,12,21] raising the question whether URSMS belongs to the VATER association or whether it is a distinct entity.…”

Vulvoplasty in New South Wales, 2001–2013: a population‐based record linkage study

“…The extra androgen in baby girls can result in enlargement of the clitoris so that it resembles a penis. VATER Syndrome or VACTERL association (20) A non-random association of birth defects. One of the birth defects can be malformed female genitalia.…”