Vesico‐intestinal Fissure With Diphallus

Hall, E. G.; McCandless, A E; Rickham, P. P.

doi:10.1111/j.1464-410x.1953.tb09269.x

Cited by 28 publications

(4 citation statements)

References 4 publications

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“…The earliest known report was the description on an Assyrian tablet from approximately 2000 BC that is now in the British Museum in London (Ives et al, 1980). The first medical description is probably Aldovrandus' Historia Monstrum , published in 1646, which references scientific details documented by Scheuke von Grafenberg in 1595 (Hall et al, 1953). A dried pelvis specimen of a 6‐year‐old boy showing marked diastasis of the pubic rami was recorded by Gerardus and Willem Vrolik in their “Tabulae” of the Museum Vrolik (Oostra et al, 1998).…”

Section: Discussionmentioning

confidence: 90%

Bladder exstrophy‐epispadias complex

Ludwig

Ching

Reutter

et al. 2009

Birth Defects Research

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The bladder exstrophy-epispadias complex (BEEC) represents an anterior midline defect with variable expression comprising a spectrum of anomalies involving the abdominal wall, pelvis, urinary tract, genitalia, and occasionally the spine and anus. The vast majority of BEEC cases are classified as non-syndromic and the etiology of this malformation is still unknown. This review presents the current state of knowledge on this multifactorial disorder, including historical retrospect, phenotypic and anatomical characterization, epidemiology, proposed developmental mechanisms, existing animal models, and implicated genetic and environmental components. These published lines of evidence argue strongly that BEEC occurs as a result of strong genetic predisposition that is yet to be deciphered.

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Section: Discussionmentioning

confidence: 90%

Bladder exstrophy‐epispadias complex

Ludwig

Ching

Reutter

et al. 2009

Birth Defects Research

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“…The first recorded description of bladder exstrophy is from an Assyrian tablet, circa 2000 B.C., preserved in the British Museum in London. The first medical description is probably Aldovrandus' Historia Monstrum, published in 1646, which references scientific details documented by Scheuke von Grafenberg in 1595 [Hall et al, 1953]. The term “exstrophy,” derived from the Greek word ekstriphein, which literally means “turn inside out,” was first used by Chaussier in 1780 [Desnos, 1972].…”

Section: Discussionmentioning

confidence: 99%

Seven new cases of familial isolated bladder exstrophy and epispadias complex (BEEC) and review of the literature

Reutter

Shapiro

Gruen

2003

American J of Med Genetics Pt A

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Clustering of the bladder exstrophy and epispadias complex (BEEC) has been described in 29 families. To explore the genetic contribution we located new families through the German and Austrian Bladder Exstrophy Support Group and the Association for the Bladder Exstrophy Community (predominantly US and Canada). We report six new families with two occurrences of BEEC, one family where the proband is the product of a consanguineous union, and four discordant twin pairs. In conjunction with the published clinical and epidemiological reports this collection suggests that there is a significant genetic predisposition for susceptibility to the BEEC. It also highlights the importance of self-referral groups for recruiting families for multicenter collaborative research efforts to identify susceptibility loci.

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“…The views of Budde (1912Budde ( , 1926, Adelmann (1920), Gruber (1923Gruber ( , 1926 and Bell (1923) included speculation on the applicability of this theory to mammals. Gruber (1926) estimated the time of development of the anomaly and the role of mechanical compression, and Budde (1926) suggested that persistence of the primitive streak could provide an abnormal ento-ectodermal connexion. Discounting Hertwig's theory, Feller and Sternberg (1929) suggested that a cell rest from the primitive knot (Hensen's node) persists and causes a cleft notochord; Korff (1937) further postulated proliferation of the cell rest to form an abnormal organ.…”

Section: Clinical Presentationmentioning

confidence: 99%

“…The fourth case may be contrasted; here muscle contraction coincided with inspiration, suggesting that an abnormal branch from a phrenic nerve activated the striated muscle in a remnant which remotely caricatured bronchial elements. The fifth patient has a form of vesicointestinal fissure (Hall, McCandless and Rickham, 1953) showing a dorsal teratomatous dermoid in association with posterior enteric diverticulum. The existence of intestinal mucosa on both surfaces of the terminal membrane of the diverticulum is consistent with it having been formed by the process of pinching off an embryonic fistula.…”

mentioning

confidence: 99%