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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease imperforate anus
Symptom C0016169|fistula
Sentences 9
PubMedID- 20444267 Our patient had an imperforate anus with a rectovaginal fistula, perimemebranous vsd, persistent foramen ovale and vertebral anomalies; features associated with a vacterl spectrum.
PubMedID- 23450927 2 this explains the associations of congenital posterior urethral fistula with imperforate anus and the fistula sometimes represent a y type urethral duplication.
PubMedID- 20929527 Case presentation: a caucasian girl was born at term after an uncomplicated pregnancy and was noted at birth to have a skin-covered posterior midline mass and imperforate anus with a fistula to the vaginal vestibule.
PubMedID- 23624461 Rectocutaneous fistula with imperforate anus in an adult.
PubMedID- 20307850 In females, the most common arm is an imperforate anus with a rectovestibular fistula, followed by an imperforate anus with a rectoperineal fistula and then cloacal anomalies.
PubMedID- 25319845 A recently published article showed that deletion of one single gene, dickkopf wnt signaling pathway inhibitor-1 (dkk1), resulted in an imperforate anus with rectourinary fistula and preputial hypospadias in mice.
PubMedID- 24057732 Bilateral hydronephrosis, and imperforate anus with a rectourethral fistula, a posterior urethral valve, a left undescended testis, a bifid scrotum, a short prepuce, and flexible clubfeet were all noted in one of twin boys.
PubMedID- 26539301 Abdomen was distended, and perineal examination revealed imperforate anus with vestibular fistula (arm).
PubMedID- 20560264 A newborn with ts with three quite rare congenital malformations (imperforate anus/anal atresia associated with rectovestibular fistula, interrupted aortic arch, and multicystic dysplastic kidney) is presented.

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