2007
DOI: 10.1002/ajmg.a.32027
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Cyclopia, aprosencephaly, and acardiac twinning: Is hypoxia‐ischemia a unifying mechanism?

Abstract: In a recent case of monochorionic diamniotic twinning we observed one twin with acardia, cyclopia, and aprosencephaly, an association not reported previously. In most cases of acardia, the development of tissues in superior regions of the body is disrupted severely, while inferior structures develop more normally. A common explanation for this disruption is hypoxia-ischemia due to twin reversed arterial perfusion (TRAP). In this condition, arterial-arterial and venous-venous anastomoses in the placenta permit … Show more

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Cited by 10 publications
(14 citation statements)
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“…From Siebert’s findings (Siebert, 2007) of HPE-like facial and cephalic defects in an acardiac human twin fetus, it was hypothesized that hypoxia led to HPE. Here, we observed a range of malformations that included HPE among a range of other malformations.…”
Section: Discussionmentioning
confidence: 99%
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“…From Siebert’s findings (Siebert, 2007) of HPE-like facial and cephalic defects in an acardiac human twin fetus, it was hypothesized that hypoxia led to HPE. Here, we observed a range of malformations that included HPE among a range of other malformations.…”
Section: Discussionmentioning
confidence: 99%
“…Siebert (Siebert, 2007) describes a case of monochorionic, diamniotic twinning in which one twin was normal and the other twin had no heart, which created hypoxia and ischemia due to reversed arterial perfusion. Structural malformations in the acardiac twin included a spectrum of anomalies that resembled HPE (Cohen, 2006): cyclopia, aprosencephaly, cystic hygroma, hypoplastic mandible and small cranium.…”
Section: Introductionmentioning
confidence: 99%
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“…The interesting case with cyclopia, sirenomelia, and acardia‐acephaly was not found previously described in the literature. However, several patients reviewed by Siebert [2007] presented cerebral defects as cyclopia, aprosencephaly, or atelencephaly with acardiac twinning. Hypoxia‐ischemia due to twin reversed arterial perfusion (TRAP) is a common explanation for these defects and probably can explain the presence of sirenomelia in our present case.…”
Section: Discussionmentioning
confidence: 99%
“…18,29 The absence of inflammation, hemorrhage, degeneration of neuroglial tissue, calcification, or other signs of tissue destruction in this case is suggestive of a primary malformation due to genetic or environmental inhibition of forebrain induction.…”
Section: Discussionmentioning
confidence: 81%