2013
DOI: 10.4045/tidsskr.13.0352
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Currarinos syndrom ved Rikshospitalet 1961 – 2012

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Cited by 10 publications
(6 citation statements)
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References 28 publications
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“…, and (32) n/a n/a n/a n/a 36 (11), (18) (5) and (6) n/a n/a n/a n/a 1 (33) n/a, not available; pts, patients. a Precise characterization of the mutation not provided in some of the articles.…”
Section: Discussionmentioning
confidence: 99%
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“…, and (32) n/a n/a n/a n/a 36 (11), (18) (5) and (6) n/a n/a n/a n/a 1 (33) n/a, not available; pts, patients. a Precise characterization of the mutation not provided in some of the articles.…”
Section: Discussionmentioning
confidence: 99%
“…The syndrome is caused by haploinsufficiency of the MNX1 gene arising from either intragenic mutations or distal 7q deletions of different sizes . Mutations in MNX1 result in complex phenotypes including (i) hemisacrum or bifid sacrum with neurogenic bladder, recurrent urinary infections, or incontinence; (ii) presacral masses such as anterior meningocele, enteric cyst, or presacral teratoma; and (iii) anorectal malformations including atresia, stenosis, and fistula frequently complicated with chronic constipation or incontinence . Once this classical triad of Currarino syndrome is recognized, a thorough search for associated malformations and developmental difficulties as well as a genetic evaluation should be initiated.…”
Section: Discussionmentioning
confidence: 99%
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“…As previously reported [2,18], the most frequent ARM in CS is the recto-perineal fistula, but other forms have been identified. Eight patients (8/24, 33%), presented the so-called "funnel anus" a characteristic feature of CS, that is a funnel-shaped anal canal, with a stenosis at the level of the dentate line [19], referred to as "anorectal stenosis" or "rectal stenosis" in our series. Constipation is a common finding in the presence or absence of an ARM [19][20][21]; although it can be ascribed to various factors, we believe, in accordance with previous reported data [2,22], that a dysganglionosis research should be performed in every CS patient affected by constipation.…”
Section: Discussionmentioning
confidence: 80%
“…In several studies, no difference between male and female frequency has been noted [ 17 , 22 , 36 , 37 ], whereas other reports listed a higher frequency of CS females [ 3 , 12 , 33 , 38 , 39 ]. Haga et al estimated a CS female-to-male ratio in adult cases of 6:1 and of 2:1 in pediatric cases, which may rely, at least in part, on the delayed diagnosis of mildly affected patients [ 40 ].…”
Section: Main Textmentioning
confidence: 99%