Single umbilical artery with caudal defects in human fetuses

Chaurasia, B. D.

doi:10.1002/tera.1420090308

Cited by 14 publications

(6 citation statements)

References 17 publications

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“…This vascular malformation is identical to that invariably observed in sirenomelia, which has been regarded by others as a pathogenetically distinctive difference between caudal regression and sirenomelia [Stevenson et al, 1986; Twickler et al, 1993; Jones, 1997; Valenzano et al, 1999; Das et al, 2002]. A review of the literature identified four other cases of caudal regression with abdominal umbilical arteries (Tables II and III) [Chaurasia, 1974; Perez‐Aytes et al, 1997]. Collectively, these cases show that an aberrant umbilical artery occurs in both sirenomelia and caudal regression.…”

Section: Discussionmentioning

confidence: 57%

“…This aberrant vessel is the basis for the hypothesis that sirenomelia results from “vascular steal”, diversion of blood away from the caudal embryo through the ectopic umbilical artery [Stevenson et al, 1986]. Although similar umbilical arterial anatomy has been described in four cases of non‐sirenomelic caudal regression, the significance of these reports has not been adequately appreciated [Chaurasia, 1974; Perez‐Aytes et al, 1997]. Instead, the presence/absence of an aberrant umbilical artery remains central to the concept that sirenomelia and caudal regression are pathogenetically distinct.…”

Section: Introductionmentioning

confidence: 99%

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Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression–sirenomelia spectrum

Duesterhoeft

Ernst

Siebert

et al. 2007

American J of Med Genetics Pt A

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Sirenomelia and caudal regression have sparked centuries of interest and recent debate regarding their classification and pathogenetic relationship. Specific anomalies are common to both conditions, but aside from fusion of the lower extremities, an aberrant abdominal umbilical artery ("persistent vitelline artery") has been invoked as the chief anatomic finding that distinguishes sirenomelia from caudal regression. This observation is important from a pathogenetic viewpoint, in that diversion of blood away from the caudal portion of the embryo through the abdominal umbilical artery ("vascular steal") has been proposed as the primary mechanism leading to sirenomelia. In contrast, caudal regression is hypothesized to arise from primary deficiency of caudal mesoderm. We present five cases of caudal regression that exhibit an aberrant abdominal umbilical artery similar to that typically associated with sirenomelia. Review of the literature identified four similar cases. Collectively, the series lends support for a caudal regression-sirenomelia spectrum with a common pathogenetic basis and suggests that abnormal umbilical arterial anatomy may be the consequence, rather than the cause, of deficient caudal mesoderm.

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Section: Discussionmentioning

confidence: 57%

Section: Introductionmentioning

confidence: 99%

Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression–sirenomelia spectrum

Duesterhoeft

Ernst

Siebert

et al. 2007

American J of Med Genetics Pt A

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“…Palacios and Rodriguez (1990) described vascular steal in LBWD in 1990. Chaurasia (1974) reported three stillborn infants with caudal malformations and single umbilical arteries of vitelline origin. Several anomalies in the first infant (imperforate anus, cystic kidney, cardiac defect) would justify the designation VACTERL association and the anomalies in infant 2 (omphalocele, exstrophy of the cloaca, imperforate anus) could represent OEIS complex.…”

Section: Discussionmentioning

confidence: 99%

Common pathogenesis for sirenomelia, OEIS complex, limb‐body wall defect, and other malformations of caudal structures

Stevenson

2021

American J of Med Genetics Pt A

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Decades of clinical, pathological, and epidemiological study and the recent application of advanced microarray and gene sequencing technologies have led to an understanding of the causes and pathogenesis of most recognized patterns of malformation. Still, there remain a number of patterns of malformation whose pathogenesis has not been established. Six such patterns of malformation are sirenomelia, VACTERL association, OEIS complex, limb‐body wall defect (LBWD), urorectal septum malformation (URSM) sequence, and MURCS association, all of which predominantly affect caudal structures. On the basis of the overlap of the component malformations, the co‐occurrence in individual fetuses, and the findings on fetal examination, a common pathogenesis is proposed for these patterns of malformation. The presence of a single artery in the umbilical cord provides a visible clue to the pathogenesis of all cases of sirenomelia and 30%–50% of cases of VACTERL association, OEIS complex, URSM sequence, and LBWD. The single artery is formed by a coalescence of arteries that supply the yolk sac, arises from the descending aorta high in the abdominal cavity, and redirects blood flow from the developing caudal structures of the embryo to the placenta. This phenomenon during embryogenesis is termed vitelline vascular steal.

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“…The type I IUA is normally associated with such severe defects that it is usually described only in a fetus [1,11,12]. It is closely associated as part of a caudal regression – sirenomelia spectrum, which is probably caused by an embryonic deficiency of the caudal mesoderm [1].…”

Section: Discussionmentioning

confidence: 99%

CT appearance of a patent impar umbilical artery in an adult woman and related anomalies: a case report and review of the literature

et al. 2009

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BackgroundWe report on a case of an impar umbilical artery (IUA) in an 18-year-old woman.Case presentationThe aorta branched off at level L2 into a ventral IUA and a dorsal aorta. The strong IUA produced the inferior mesenteric artery (IMA), the renal artery of a left-sided duplex kidney, and the right-sided ovarian artery before it turned to the right to merge into the right common iliac artery. From the aorta arose the lumbar arteries, the median sacral artery, lateral sacral arteries, and iliolumbar arteries before it turned to the left. Both vessels were connected by an artery 0.8 cm in diameter running infraperitoneal, from the left side of which the uterine artery arose for a left paramedian uterus didelphys.ConclusionThis anatomical situation is presented for the first time using an arterial contrast enhanced CT and is discussed within the context of previously known cases.

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Single umbilical artery with caudal defects in human fetuses

Cited by 14 publications

References 17 publications

Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression–sirenomelia spectrum

Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression–sirenomelia spectrum

Common pathogenesis for sirenomelia, OEIS complex, limb‐body wall defect, and other malformations of caudal structures

CT appearance of a patent impar umbilical artery in an adult woman and related anomalies: a case report and review of the literature

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