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

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 malform...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2021-05, Vol.185 (5), p.1379-1387
Main Author: Stevenson, Roger E.
Format: Article
Language:English
Subjects:
Aorta
Arteries
Blood flow
Body wall
DNA microarrays
Embryogenesis
Epidemiology
Fetuses
limb‐body wall defect
OEIS complex
Pathogenesis
Placenta
Septum
sirenomelia
Umbilical cord
VACTERL association
Veins & arteries
vitelline vascular steal
Yolk
Yolk sac
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62103