Umbilical cord agenesis in limb body wall defect

Craven, Catherine; Carey, John C.; Ward, Ken

doi:10.1002/(sici)1096-8628(19970711)71:1<97::aid-ajmg18>3.0.co;2-q

Cited by 32 publications

(33 citation statements)

References 14 publications

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“…It has been suggested that the cloaca/urogenital sinus and adjacent tissues differentiate into the urogenital and reproductive organs, including the urinary bladder (hereafter described as the bladder) in both sexes. This is supported by reports of complex congenital malformations such as: exstrophy-epispadias complex (exstrophy of cloaca or bladder and abnormal dorsal external genitalia; hereafter, dorsal external genitalia represents upper external genitalia); defective body wall, bladder and genitalia formation; and limb body wall defects that are probably caused by abnormalities in early development of the cloaca and urogenital sinus (Craven et al, 1997;Manner and Kluth, 2005;Penington and Hutson, 2003). The constellation of defects reported in affected individuals suggests that coordinated developmental programs regulate bladder and external genital morphogenesis.…”

Section: Introductionmentioning

confidence: 61%

Molecular analysis of coordinated bladder and urogenital organ formation by Hedgehog signaling

Haraguchi

Motoyama

Sasaki³

et al. 2007

Development

137

162

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The urogenital and reproductive organs, including the external genitalia, bladder and urethra, develop as anatomically aligned organs. Descriptive and experimental embryology suggest that the cloaca, and its derivative, the urogenital sinus, contribute to the formation of these organs. However, it is unknown how the primary tissue lineages in, and adjacent to, the cloaca give rise to the above organs, nor is bladder formation understood. While it is known that sonic hedgehog (Shh) is expressed by the cloacal epithelia, the developmental programs that regulate and coordinate the formation of the urogenital and reproductive organs have not been elucidated. Here we report that Shh mutant embryos display hypoplasia of external genitalia, internal urethra (pelvic urethra) and bladder. The importance of Shh signaling in the development of bladder and external genitalia was confirmed by analyzing a variety of mutant mouse lines with defective hedgehog signaling. By genetically labeling hedgehog-responding tissue lineages adjacent to the cloaca and urogenital sinus, we defined the contribution of these tissues to the bladder and external genitalia. We discovered that development of smooth muscle myosin-positive embryonic bladder mesenchyme requires Shh signaling, and that the bladder mesenchyme and dorsal (upper) external genitalia derive from Shh-responsive peri-cloacal mesenchyme. Thus, the mesenchymal precursors for multiple urogenital structures derive from peri-cloacal mesenchyme and the coordination of urogenital organ formation from these precursors is orchestrated by Shh signals.

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Section: Introductionmentioning

confidence: 61%

Molecular analysis of coordinated bladder and urogenital organ formation by Hedgehog signaling

Haraguchi

Motoyama

Sasaki³

et al. 2007

Development

137

162

View full text Add to dashboard Cite

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“…Van Allen et al [1987a] concluded that there was no correlation between either the cranio-caudal location or sidedness of the schisis and the internal or limb anomalies. Other authors have disagreed [e.g., Pagon et al, 1979;Russo and Vecchione, 1996;Craven et al, 1997;Luehr et al, 2002]. Similarly the idea that a singular pathogenetic mechanism can explain the spectrum of associated findings has been questioned [e.g., Luebke et al, 1990;Moerman et al, 1992], and furthermore there has been concern that such lumping may impede discovery of the underlying pathogenesis [Russo et al, 1993;Craven et al, 1997].…”

Section: Discussionmentioning

confidence: 99%

“…Other authors have disagreed [e.g., Pagon et al, 1979;Russo and Vecchione, 1996;Craven et al, 1997;Luehr et al, 2002]. Similarly the idea that a singular pathogenetic mechanism can explain the spectrum of associated findings has been questioned [e.g., Luebke et al, 1990;Moerman et al, 1992], and furthermore there has been concern that such lumping may impede discovery of the underlying pathogenesis [Russo et al, 1993;Craven et al, 1997]. Even the definition of LBWD that allows inclusion of cases that have craniofacial and limb defects but lack an abdominal wall defect, or have a body wall and craniofacial malformation but no limb anomaly is debated [Martinez-Frias, 1997].…”

Section: Discussionmentioning

confidence: 99%

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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“…Others 9 support a vascular disruption etiology for the limb-body wall complex, whereas still others suggest a primary malformation. 10 It is intriguing to ponder whether the finding of a vascular disruption anomaly (gastroschisis) in our case provided a bridge for unification of the amniotic rupture and vascular disruption theories. A final iatrogenic etiology can also be added for completeness, with amniotic bands occurring after in utero fetal surgery/fetoscopy.…”

Section: Discussionmentioning

confidence: 90%

Extra‐amniotic Pregnancy With Fetal Gastroschisis and Clubfoot

Baca

Thomas

Celebrezze

et al. 2009

J of Ultrasound Medicine

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here have been prior reports of an extra-amniotic pregnancy in the literature.1-4 None of these previous cases noted fetal deformities. We report a case with fetal anomalies. Our patient was initially evaluated at 20 weeks' gestation via sonography for findings of a "free-floating" amnion and distinct localization of the fetal head and upper body from the lower trunk and extremities within separate cavities (intra-and extra-amniotic). There were additional findings of gastroschisis and a right-sided clubfoot.The patient was delivered at 33 weeks' gestation because of early labor and a nonreassuring fetal heart tracing. Our findings suggest that there may be an intricate role between extra-amniotic pregnancies and fetal development. The spectrum of amniotic bands, extra-amniotic pregnancy, and extra-chorionic pregnancy is reviewed. Case ReportOur patient was an 18-year-old woman, gravida 1, para 0, seen in our ultrasound unit as a referral for abnormal outside scan findings at 20 weeks' gestation. A concern was raised regarding amniotic bands. On sonography, the patient had a free-floating amnion within the cavity, but no bands could be seen attached to the fetus (Acuson Sequoia ultrasound system with a 4C1-S 4.5-MHz probe; Siemens Medical Solutions, Mountain View, CA; abdominal images). Transverse imaging planes of the uterine cavity revealed a circumferential ring of amnion around the fetus, and longitudinal images showed that the head and upper body were "held" proximate to the fundal placenta and cord insertion site, whereas the lower body appeared to lie "outside" the membrane ring (Figures 1 and 2). There was also noted to be a typical right-sided gastroschisis and a unilateral (right-sided) clubfoot. The existing literature is specific in stating that an extra-amniotic pregnancy is not

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Umbilical cord agenesis in limb body wall defect

Cited by 32 publications

References 14 publications

Molecular analysis of coordinated bladder and urogenital organ formation by Hedgehog signaling

Molecular analysis of coordinated bladder and urogenital organ formation by Hedgehog signaling

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

Extra‐amniotic Pregnancy With Fetal Gastroschisis and Clubfoot

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