title: Survival in a neonate with complete urorectal septum malformation sequence after fetal vesico-amniotic shunting for a prominently dilated cloaca.
abstract: Complete urorectal septum malformation sequence (URSMS) is usually a lethal anomaly that is characterized by urethral obstruction, imperforate anus, ambiguous genitalia, renal agenesis or dysplasia, and mullerian duct maldevelopment. This anomaly is thought to be caused by the cessation of urorectal septum migration toward the caudal cloacal membrane. Teratogenic factors or a genetic abnormality is postulated as the etiology. To date, only 4 patients with URSMS have survived the neonatal period; however, 2 of these infants died before the age of 1 year. We report the survival in a case with complete URSMS who had moderate pulmonary hypoplasia and preserved left renal function. The cloacal remnant was dilated more than expected because the wall of the muscle layer was torn, perhaps in early fetal life, and timely placement of vesico-amniotic shunts prevented severe pulmonary hypoplasia caused by oligohydramnios.
authors.affiliation: Department of Pediatric Surgery, Tokyo University Hospital, Tokyo, Japan. KANAMORI-PSU@h.u-tokyo.ac.jp
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Kanamori
authors.forename: Tadashi
authors.initials: T
authors.lastname: Iwanaka
authors.forename: Saori
authors.initials: S
authors.lastname: Nakahara
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kawashima
authors.forename: Makoto
authors.initials: M
authors.lastname: Komura
authors.forename: Masahiko
authors.initials: M
authors.lastname: Sugiyama
authors.forename: Yoshimasa
authors.initials: Y
authors.lastname: Kamei
authors.forename: Hironobu
authors.initials: H
authors.lastname: Hyodo
authors.forename: Shun-ichi
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: Shiro
authors.initials: S
authors.lastname: Kohzuma
authors.forename: Yuji
authors.initials: Y
authors.lastname: Taketani
authors.forename: Keiji
authors.initials: K
authors.lastname: Goishi
authors.forename: Akio
authors.initials: A
authors.lastname: Ishiguro
authors.forename: Shinya
authors.initials: S
authors.lastname: Tsuchida
authors.forename: Masaru
authors.initials: M
authors.lastname: Takamizawa
authors.forename: Takashi
authors.initials: T
authors.lastname: Igarashi
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000601:surgery*; D001006:Anus, Imperforate / Q000175:diagnosis / Q000601:surgery*; D002988:Cloaca / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008171:Lung Diseases / Q000151:congenital / Q000175:diagnosis / Q000601:surgery*; D008279:Magnetic Resonance Imaging; D011247:Pregnancy; D012007:Rectum / Q000002:abnormalities; D016216:Ultrasonography, Prenatal; D014524:Urethral Obstruction / Q000175:diagnosis / Q000601:surgery*; D014564:Urogenital Abnormalities / Q000175:diagnosis / Q000601:surgery*; D055815:Young Adult