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Published in Samar Razaq, Difficult Cases in Primary Care, 2021
In the absence of routine surveillance, congenital anorectal abnormalities may be missed. There is a wide range of anorectal anomalies that can occur congenitally. Depending on the type of anomaly, there may be complete anorectal agenesis with or without complicated fistulas between adjacent organs or simply just anal stenosis. Anal stenosis is treated by gradual anal dilation and anoplasty if needed. Prognosis is better if an early diagnosis is made and effective treatment instituted. An abnormality on visual examination may not always be apparent, hence occasionally necessitating a digital rectal exam with the fifth digit.
Congenital Etiology
Published in Han C. Kuijpers, Colorectal Physiology: Fecal Incontinence, 2019
These elements are congenitally abnormal in different degrees in most types of anorectal malformations. Since anorectal anomalies represent a spectrum of defects (Figure 1), the anatomical and functional abnormalities seen in these defects are also represented in a way as a spectrum. The anal canal is absent in most types of anorectal malformations. Therefore, one cannot expect “normal” bowel function in most cases of anorectal malformations. Patients born with the so-called “low defects” have very good clinical results after operations; they are born with an anal canal that is not totally normal. There is only one specific defect, called rectal atresia, in which the patient has a complete anal canal. A meticulous repair of this defect gives these patients full bowel control. This is the most representative example of the importance of the anal canal in bowel control.
Anorectal anomalies
Published in Prem Puri, Newborn Surgery, 2017
Anorectal anomalies present with a spectrum of defects; on the “good” side of the spectrum, we see patients with minor malformations that require minimal treatment with excellent results; on the other extreme of the spectrum, we find cases with complex defects, which represent a serious technical challenge and for whom the results in terms of bowel, urinary, and sexual function are not good despite accurate anatomic reconstruction. A newborn with an anorectal malformation may represent a surgical emergency related to intestinal obstruction and (or) due to severe associated urologic, gastrointestinal, or cardiac defects, which may require aggressive and efficient management. Other patients with these defects do not represent an emergency, because they have a fistula that allows intestinal decompression and they are born without serious associated abnormalities. In these cases, the repair of the defect can become an elective procedure or, if the baby is in good condition, can be definitively managed in the newborn period.
Clinical Presentations and Diagnostic Imaging of VACTERL Association
Published in Fetal and Pediatric Pathology, 2023
Gabriele Tonni, Çağla Koçak, Gianpaolo Grisolia, Giuseppe Rizzo, Edward Araujo Júnior, Heron Werner, Rodrigo Ruano, Waldo Sepulveda, Maria Paola Bonasoni, Mario Lituania
The word “association”, by definition, is different from “syndrome”. A set of related symptoms characterizes syndromes, whereas associations are nonrandom interactions. Associations represent the idiopathic occurrence of multiple congenital anomalies during blastogenesis. The key concept is the implication that different causal factors, acting at certain stages in development, cause similar patterns of defects [17]. Developmental defects occurring during blastogenesis are polytopic and originate in two or more progenitor fields, for instance, anorectal anomalies. Monotopic defects arise during organogenesis, which involves one genetic field. Polydactyly, one of the many clinical symptoms of VACTERL association, is caused by a monotopic defect during organogenesis. “Clinical heterogeneity” depends on when the different factors (genetic and/or environmental) act, therefore resulting in either an isolated developmental field defect (DFD) or a DFD associated with other patterns of malformations. The development field is a region or part of the embryo which responds as a coordinated unit to embryonic induction and results in complex or multiple anatomic structures [18]. Etiological heterogeneity is one of the known characteristics of the DFD.
Prenatal diagnosis and outcome of unilateral multicystic kidney
Published in Journal of Obstetrics and Gynaecology, 2021
Gurcan Turkyilmaz, Bilal Cetin, Emircan Erturk, Tugba Sivrikoz, Ibrahim Kalelioglu, Recep Has, Atıl Yuksel, Tayfun Oktar, Orhan Ziylan
Extrarenal anomalies were detected in 13% of cases in our series. The majority of these anomalies were SUA. Furthermore, numerous systems were affected, including the central nervous system, cardiac, skeletal). Winding et al. (2014) showed extrarenal abnormalities in 16% of cases, and most of these were anorectal anomalies. In our series, we found SUA in 4.8% of our patients, which was higher than the general population. Since nonrenal abnormalities are also involved with MCDK, it is essential to scan entire foetus when MCDK is diagnosed.
Para-anal lipoma as a rare consequence to perineal trauma. Case-report and review of the literature
Published in Acta Chirurgica Belgica, 2019
Ewelina Uscilowska, Nora Abbes Orabi, Daniel Léonard, Anne Mourin-Jouret, Louis Libbrecht, Pierre Trefois, Marie-Armelle Denis, Radu Bachmann, Christophe Remue, Alex Kartheuser
Perineal lipomas are unusual tumors which require a complete imaging evaluation in order to assess tumor extension, and eventually rule out other urogenital or anorectal anomalies. In some cases, pathological examination of imaging guided biopsies are needed to exclude malignancy especially a well-differentiated liposarcoma. MRI remains the first option and radical surgical excision is the gold standard treatment.