About 433 results

ALLMedicine™ Imperforate Anus Center

Research & Reviews  171 results

Rectal duplication cyst in an adult with a history of imperforate anus: a diagnostic ch...
BMJ Case Reports; Cavadas S, Gonçalves E et. al.

Mar 17th, 2022 - Rectal duplications are rare congenital anomalies that represent 1%-6% of alimentary tract duplications. We report a case of a woman in her 50s who presented to our hospital with perianal pain and urinary retention. She had a history of imperforat...

Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation.
American Journal of Medical Genetics. Part A; Tan EC, Lai AHM et. al.

Mar 16th, 2022 - Pathogenic variants in NOTCH2 which encodes a single-pass transmembrane protein have been identified as a cause of several autosomal dominant congenital disorders. In particular, truncating mutations in exon 34 have been found in patients with ske...

Obstructed Hemivagina and Ipsilateral Renal Anomaly (OHVIRA) - A Fetal Autopsy Case.
Journal of Pediatric and Adolescent Gynecology; Chan ES, Stefanovici C

Mar 12th, 2022 - Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) is a rare congenital anomaly characterized by uterus didelphys, unilateral obstructed hemivagina, and ipsilateral renal anomaly. Autopsy performed on a third trimester stillborn fetus un...

Acalvaria and imperforate anus: an extremely rare association.
Clinical Dysmorphology; Del Castillo-Calderón G, Delgado-Nacaza GA et. al.

Mar 9th, 2022 - Acalvaria and imperforate anus: an extremely rare association.|2022|Del Castillo-Calderón G,Delgado-Nacaza GA,Hernández-Obando MC,Eraso-Narváez H,Portillo-Miño JD,|

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News  1 results

Redness and Painful Ulcerations in the Perineal Area
Sara M. James, MD, Amy L. Gagnon, MD

Apr 7th, 2017 - The Diagnosis: PELVIS Syndrome Infantile hemangiomas (IHs) are present in up to 10% of infants by 1 year of age and are most commonly located on the face and upper extremities. Less than 10% of IHs develop in the perineum.

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Patient Education  1 results

Imperforate Anus

Imperforate anus is a congenital (present from birth) defect in which the opening to the anus is missing or blocked. The problem is caused by abnormal development of the fetus and may be associated with other birth defects.

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