Muscle Patterning in Mouse and Human Abdominal Wall Development and Omphalocele Specimens of Humans

Nichol, Peter F.; Corliss, Robert F.; Yamada, Shigehito; Shiota, Kohei; Saijoh, Yukio

doi:10.1002/ar.22556

Cited by 21 publications

(34 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Within this group, gastroschisis and omphalocele, including thoracoabdominoschisis, are most prevalent with frequencies of 1 : 2-4000 (Glasser, 2001), whereas other ventral midline defects, such as ectopia cordis, exstrophy-epispadias complex (bladder or cloacal exstrophy), or a combination of a ventral body wall and a limb defect are at least 10-fold rarer (Glasser, 2001;Hunter et al 2011). In omphalocele and gastroschisis, the rectus muscle was intact but inserted more laterally on the costal margins and xiphoid process, respectively (Klein & Hertzler, 1981;Nichol et al 2012). In the same way, the sternum in ectopia cordis is usually accompanied by a bifid sternum, diastasis of the abdominal rectus muscles, and a diaphragmatic defect (Kanagasuntheram & Verzin, 1962).…”

Section: Implications For Malformationsmentioning

confidence: 99%

Development of the ventral body wall in the human embryo

et al. 2015

View full text Add to dashboard Cite

Migratory failure of somitic cells is the commonest explanation for ventral body wall defects. However, the embryo increases ~ 25-fold in volume in the period that the ventral body wall forms, so that differential growth may, instead, account for the observed changes in topography. Human embryos between 4 and 10 weeks of development were studied, using amira reconstruction and cinema 4D remodeling software for visualization. Initially, vertebrae and ribs had formed medially, and primordia of sternum and hypaxial flank muscle primordium laterally in the body wall at Carnegie Stage (CS)15 (5.5 weeks). The next week, ribs and muscle primordium expanded in ventrolateral direction only. At CS18 (6.5 weeks), separate intercostal and abdominal wall muscles differentiated, and ribs, sterna, and muscles began to expand ventromedially and caudally, with the bilateral sternal bars fusing in the midline after CS20 (7 weeks) and the rectus muscles reaching the umbilicus at CS23 (8 weeks). The near-constant absolute distance between both rectus muscles and approximately fivefold decline of this distance relative to body circumference between 6 and 10 weeks identified dorsoventral growth in the dorsal body wall as determinant of the 'closure' of the ventral body wall. Concomitant with the straightening of the embryonic body axis after the 6th week, the abdominal muscles expanded ventrally and caudally to form the infraumbilical body wall. Our data, therefore, show that the ventral body wall is formed by differential dorsoventral growth in the dorsal part of the body.

show abstract

Section: Implications For Malformationsmentioning

confidence: 99%

Development of the ventral body wall in the human embryo

et al. 2015

View full text Add to dashboard Cite

show abstract

“…Two major hypotheses to explain the cause of large omphalocele have been proposed: the primary abdominal wall (PAW) defect theory and the secondary abdominal wall defect theory (see reviews by Brewer and Williams, 2004b ; Williams, 2008 ; Sadler and Feldkamp et al, 2008 ; Feldkamp et al, 2007 ; Sadler, 2010 ; Nichol et al, 2012 ). The ventral body wall is initially derived from the PAW, which is composed of the somatic mesoderm and surface ectoderm ( Durland et al, 2008 ).…”

Section: Introductionmentioning

confidence: 99%

“…The ventral body wall is initially derived from the PAW, which is composed of the somatic mesoderm and surface ectoderm ( Durland et al, 2008 ). Myoblasts that originate from somites migrate into the PAW and differentiate into abdominal muscles to sequentially form the secondary body wall (reviewed in Nichol et al, 2012 ). A recent study demonstrated the abnormal formation of abdominal muscle in human fetal specimens with a large omphalocele, supporting the secondary abdominal wall defect theory ( Nichol et al, 2012 ).…”

Section: Introductionmentioning

confidence: 99%

Mice doubly deficient in Six4 and Six5 show ventral body wall defects reproducing human omphalocele

Takahashi

Tamura

Satō

et al. 2018

Disease Models &Amp; Mechanisms

View full text Add to dashboard Cite

Omphalocele is a human congenital anomaly in ventral body wall closure and may be caused by impaired formation of the primary abdominal wall (PAW) and/or defects in abdominal muscle development. Here, we report that mice doubly deficient in homeobox genes Six4 and Six5 showed the same ventral body wall closure defects as those seen in human omphalocele. SIX4 and SIX5 were localized in surface ectodermal cells and somatic mesoderm-derived mesenchymal and coelomic epithelial cells (CECs) in the PAW. Six4−/−;Six5−/− fetuses exhibited a large omphalocele with protrusion of both the liver and intestine, or a small omphalocele with protrusion of the intestine, with complete penetrance. The umbilical ring of Six4−/−;Six5−/− embryos was shifted anteriorly and its lateral size was larger than that of normal embryos at the E11.5 stage, before the onset of myoblast migration into the PAW. The proliferation rates of surface ectodermal cells in the left and right PAW and somatic mesoderm-derived cells in the right PAW were lower in Six4−/−;Six5−/− embryos than those of wild-type embryos at E10.5. The transition from CECs of the PAW to rounded mesothelial progenitor cells was impaired and the inner coelomic surface of the PAW was relatively smooth in Six4−/−;Six5−/− embryos at E11.25. Furthermore, Six4 overexpression in CECs of the PAW promoted ingression of CECs. Taken together, our results suggest that Six4 and Six5 are required for growth and morphological change of the PAW, and the impairment of these processes is linked to the abnormal positioning and expansion of the umbilical ring, which results in omphalocele.

show abstract

“…It results from herniation of abdominal viscera through an enlarged umbilical ring to the base of the umbilical cord. Possible causes include failure of the bowel to return to the abdominal cavity after normal physiologic herniation and failure of the abdominal wall to close (13). The defect size and sac contents are variable; sac contents may include bowel, liver, and other viscera (18).…”

Section: Omphalocelementioning

confidence: 99%

“…The lateral edges (somatic mesoderm) move ventrally toward each other, constricting the yolk sac and creating a coelomic space (future peritoneal cavity) that separates the gut tube (gastrointestinal tract) from the body tube (primary abdominal wall). Myoblasts then migrate into the primary abdominal wall and form the muscles and connective tissue (13) (Fig 1).…”

Section: Introductionmentioning

confidence: 99%

Complex Abdominal Wall Defects: Appearances at Prenatal Imaging

Pakdaman

Woodward²,

Kennedy³

2015

RadioGraphics

View full text Add to dashboard Cite

Abdominal wall defects are a complex group of anomalies, and many are incorrectly diagnosed. Evaluation of the defect relative to the umbilical cord insertion site is fundamentally important in differentiating among the various malformations. The two most common abdominal wall defects are gastroschisis, in which the defect is on the right side of the normally inserting cord and free-floating bowel loops are present, and omphalocele, in which the cord inserts on a membrane-covered midline defect. Omphalocele may also form a portion of a more complex defect that may remain undiagnosed without thorough evaluation. In cloacal exstrophy, the defect extends inferiorly and the bowel loops extrude between the two bladder halves. In pentalogy of Cantrell, the defect extends superiorly and is typically associated with ectopia cordis. Bladder exstrophy is a lower abdominal defect in which the hallmark finding is absence of a fluid-filled bladder. The cord insertion site is normal to low but does not form part of the defect. Both body stalk anomaly and abdominoschisis due to amniotic bands cause severe malformations, often involving extrusion of solid organs and the bowel. Although these two entities have many overlapping features, body stalk anomaly may be recognized on the basis of absence of a free-floating umbilical cord. With use of an algorithmic approach beginning with discovery of the location of the defect, a more precise diagnosis can be determined that may directly affect pre- and postnatal management decisions.

show abstract

Muscle Patterning in Mouse and Human Abdominal Wall Development and Omphalocele Specimens of Humans

Cited by 21 publications

References 12 publications

Development of the ventral body wall in the human embryo

Development of the ventral body wall in the human embryo

Mice doubly deficient in Six4 and Six5 show ventral body wall defects reproducing human omphalocele

Complex Abdominal Wall Defects: Appearances at Prenatal Imaging

Contact Info

Product

Resources

About