Limb-body wall complex: 4 new cases illustrating the importance of examining placenta and umbilical cord

Colpaert, Cécile; Bogers, Johannes; Hertveldt, Koen; Loquet, Philip; Dumon, Jan E.; Willems, Patrick J.

doi:10.1016/s0344-0338(00)80114-4

Cited by 40 publications

(40 citation statements)

References 28 publications

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“…Internal anomalies (e.g., renal agenesis) were suggested to be due the defective lateral abdominal placodes causing a deficiency of intermediate mesoderm. This hypothesis has been accepted as reasonable by some subsequent authors [Colpaert et al, 2000;Pumberger et al, 2001], while others have rejected the notion. Moerman et al [1992] claim it to be unlikely because it would be expected to be associated with familial recurrence, but they ignore the possibility of new dominant mutations accounting for this lethal malformation, and there is at least one reported recurrence of LBWD [Luehr et al, 2002].…”

Section: Review Of Prior Hypothesesmentioning

confidence: 84%

Limb–body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?

Hunter

Seaver

Stevenson

2011

American J of Med Genetics Pt A

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Aside from gastroschisis and omphalocele, major defects of the ventral body (thoracoabdominal) wall are relatively uncommon and almost universally lethal. They are most often associated with other anomalies including those of the limbs that may range from amelia to mild positional deformations, unusual craniofacial malformations, and a variety of visceral abnormalities that include the heart, lungs, genitourinary system, and gut. This complex of ventral wall anomalies has been discussed under a broad and changing nomenclature that has included amniotic band disruption complex, amnion rupture sequence, limb-body wall defect (or complex), and simply body wall complex. Three major theories have been suggested to explain this complex: early amnion rupture (operating through uterine pressure and/or disruption by amniotic bands), vascular compromise (primarily hypoperfusion), and an early intrinsic defect of the developing embryo. We present four patients that illustrate the spectrum of ventral body wall defects, and from there critique the current hypotheses of pathogenesis. We conclude that this association of malformations originates as early as the embryonic disc stage, and that some of the observed associated anomalies are secondary complications of the primary disturbance in embryogenesis. We propose a new explanation for the atypical facial clefts and cranial malformations that are often observed.

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Section: Review Of Prior Hypothesesmentioning

confidence: 84%

Limb–body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?

Hunter

Seaver

Stevenson

2011

American J of Med Genetics Pt A

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“…While the defects seen in mice lacking Aebp1/Aclp or Alx-4 function appear consistent with gastroschisis, with intact umbilical cords, the defect seen in mice lacking Bmp1 is not. While the membrane around the gut is absent in Bmp -/-mice, as would be seen in gastroschisis, the abnormality in body wall closure observed is more consistent with limb body wall complex (Suzuki et al, 1996;Craven et al, 1997;Colpaert et al, 2000). Furthermore, the region surrounding the umbilicus is affected, with the herniation of the gut occurring in this region, unlike in gastroschisis in which the herniation is generally displaced to the right of the umbilical cord, which is unaffected.…”

Section: An Example: Identification Of Candidate Genes For Gastroschisismentioning

confidence: 79%

Incorporating genetic analyses into birth defects cluster investigations: Strategies for identifying candidate genes

Green

Moore

2006

Birth Defects Research

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“…Gebeliğin 5. Haftasında sefalik, kaudal ve lateral kıvrımların gelişiminde defekt sonucu ekstraembriyonik çölom obliterasyonunda bozukluk olması bu anomali ile ilişkilendirilmiştir (2,10).…”

Section: Discussionunclassified

Birinci Trimesterde Tani Konulan Body Stalk Anomalisi: Olgu Sunumu

Yalçın

Akkurt

Yavuz

et al. 2017

GMJ

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ÖZETBody stalk anomalisi nadir görülen konjenital bir anomali olup abdominal duvar defekti, ağır kifoskolyoz ve rudimenter umblikal kord varlığı ile karakterizedir. Omfalosel ve gastroşizis gibi diğer abdominal duvar defektlerinden ayırıcı tanı önemlidir. İzole gastroşizis benign özellik gösterirken body stalk anomalisi normal karyotipe rağmen fatal seyretmektedir. Yirmi iki yaşında gravida 2, parite 1 olgunun yapılan sonografik muayenesinde fetusta karaciğer ve bağırsakları içeren geniş abdominal defekt, ağır kifoskolyoz ve sağ ayakta talipes ekinovarus mevcuttu. Body stalk anomalisi ön tanısı konuldu. Postmortem incelemeler tanımız ile uyumlu idi. Sonuç olarak karın ön duvarı defekti tespit edildiğinde body stalk anomalisi akla gelmeli, sonogramda eşlik eden bulguların varlığı dikkatle araştırılmalı ve böylece aileye doğru prognoz bilgisi sağlanmalıdır. ABSTRACTBody stalk anomaly is a rare congenital anomaly characterized by the presence of an abdominal wall defect, severe kyphoscoliosis and a rudimentary umbilical cord. Differential diagnosis is important from other abdominal wall defects such as omphalocele and gastroschisis. Isolated gastroschisis shows benign property while body stalk anomaly seems fatal despite normal karyotype. A 22-year-old gravida 2, para 1 cases' ultrasound examination showed extensive abdominal defect including liver and intestines of the fetus, severe kyphoscoliosis and right foot talipes equinovarus. Preliminary diagnosis was body stalk anomaly. Postmortem examinations were consistent with the definition. Consequently, when the anterior abdominal wall defect was detected, body stalk anomaly should be remembered, the presence of accompanying symptoms on sonogram should be examined carefully and thus accurate prognosis information should be provided to the family.

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Limb-body wall complex: 4 new cases illustrating the importance of examining placenta and umbilical cord

Cited by 40 publications

References 28 publications

Limb–body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?

Limb–body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?

Incorporating genetic analyses into birth defects cluster investigations: Strategies for identifying candidate genes

Birinci Trimesterde Tani Konulan Body Stalk Anomalisi: Olgu Sunumu

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