A Case of Amyoplasia in a Monochorionic Twin Pregnancy: A Sequela from Twin-Twin Transfusion Syndrome?

Wong, H. S.; Kidd, Avril; Zuccollo, Jane; Parker, S.; Richardson, Victoria; Tait, Jonathan F.; Pringle, Kevin C.

doi:10.1159/000193224

Cited by 8 publications

(11 citation statements)

References 36 publications

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“…Twin‐twin transfusion may be a causative factor in the excessive incidence of amyoplasia in monozygotic twin pregnancy and supports the vascular theory (Wong et al,2009) The apparent excessive incidence of discordant amyoplasia in monozygotic twins suggests that a genetic or a shared environmental cause is less likely (Hall et al,1983b; Wong et al,2009).…”

Section: Discussionmentioning

confidence: 83%

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Septo‐optic dysplasia and associations with amyoplasia and gastroschisis

Kamien

Zankl

Gabbett

2010

Birth Defects Research

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Section: Discussionmentioning

confidence: 83%

“…The hypothesis that some cases of amyoplasia may have a vascular origin is supported by its association with gastroschisis and intestinal atresia (Collins et al,1986; Reid et al,1986; Shenoy et al,1999; Hunter and Stevenson,2008; Wong et al,2009).…”

Section: Discussionmentioning

confidence: 99%

Septo‐optic dysplasia and associations with amyoplasia and gastroschisis

Kamien

Zankl

Gabbett

2010

Birth Defects Research

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“…However, even in the absence of TTTS, MC twins are seven times more likely to develop congenital heart disease, and this usually occurs in one twin only [5-7,13,21,24]. The higher risk nature of multiple pregnancies, their proclivity towards complications, and the twin-twin competition for maternal resources increases the probability of a skewed environment affecting the twins in utero [25,26]. …”

Section: In Utero Environment and Discordancementioning

confidence: 99%

Genetic, environmental and stochastic factors in monozygotic twin discordance with a focus on epigenetic differences

Czyz

Morahan

Ebers

et al. 2012

BMC Med

100

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Genetic-epidemiological studies on monozygotic (MZ) twins have been used for decades to tease out the relative contributions of genes and the environment to a trait. Phenotypic discordance in MZ twins has traditionally been ascribed to non-shared environmental factors acting after birth, however recent data indicate that this explanation is far too simple. In this paper, we review other reasons for discordance, including differences in the in utero environment, genetic mosaicism, and stochastic factors, focusing particularly on epigenetic discordance. Epigenetic differences are gaining increasing recognition. Although it is clear that in specific cases epigenetic alterations provide a causal factor in disease etiology, the overall significance of epigenetics in twin discordance remains unclear. It is also challenging to determine the causality and relative contributions of environmental, genetic, and stochastic factors to epigenetic variability. Epigenomic profiling studies have recently shed more light on the dynamics of temporal methylation change and methylome heritability, yet have not given a definite answer regarding their relevance to disease, because of limitations in establishing causality. Here, we explore the subject of epigenetics as another component in human phenotypic variability and its links to disease focusing particularly on evidence from MZ twin studies.

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“…Wong et al, 2009, reported a case of suspected Amyoplasia in MZ twins with somewhat unusual features (flexed elbow, gliosis of the cord, etc.) who had TTTS.…”

Section: Discussionmentioning

confidence: 99%

“…We also reviewed all published case of twins and arthrogryposis (well over 60 reports, already published), however, not as a meta‐analysis (Hall et al, 1983; Wong et al, 2009).…”

Section: Methodsmentioning

confidence: 99%

The mystery of monozygotic twinning I: What can Amyoplasia tell us about monozygotic twinning and the possible role of twin–twin transfusion?

Hall

2021

American J of Med Genetics Pt A

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Amyoplasia is a very specific, nongenetic clinically recognizable form of arthrogryposis, representing about one‐third of individuals with arthrogryposis surviving the newborn period. There is a markedly increased number of individuals with Amyoplasia who are one of monozygotic (MZ) twins, with the other twin being normal. Thus, it would appear that Amyoplasia is definitely associated with and may be caused by an MZ twinning event. The twin–twin transfusion seen in MZ twins could play an etiologic role in producing Amyoplasia. In this article, Amyoplasia twinning is compared to twinning in other forms of arthrogryposis. The accompanying paper examines various types of MZ twinning (Hall, 2021). Amyoplasia is primarily associated with spontaneous MZ twinning.

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A Case of Amyoplasia in a Monochorionic Twin Pregnancy: A Sequela from Twin-Twin Transfusion Syndrome?

Cited by 8 publications

References 36 publications

Septo‐optic dysplasia and associations with amyoplasia and gastroschisis

Septo‐optic dysplasia and associations with amyoplasia and gastroschisis

Genetic, environmental and stochastic factors in monozygotic twin discordance with a focus on epigenetic differences

The mystery of monozygotic twinning I: What can Amyoplasia tell us about monozygotic twinning and the possible role of twin–twin transfusion?

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