<scp>The mystery of monozygotic twinning II</scp>: What can monozygotic twinning tell us about Amyoplasia from a review of the various mechanisms and types of monozygotic twinning?

Hall, Judith G.

doi:10.1002/ajmg.a.62177

Cited by 6 publications

(6 citation statements)

References 171 publications

(216 reference statements)

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“…It is thought to be of vascular and/or hypoxic etiology, 10 and all attempts to identify a genetic etiology have been failing so far. In monozygotic twins, primarily in spontaneous twinning, there is a marked increase of Amyoplasia in one of the twins, the other twin being normal 10 . Hypoxic/vascular events, failure of anterior horn cell maturation and twinning mechanisms themselves are discussed as possible etiologic mechanisms 10,11 .…”

Section: What Is Arthrogryposis and How Common Is It?mentioning

confidence: 99%

“…[7][8][9] Its occurrence is sporadic. It is thought to be of vascular and/or hypoxic etiology, 10 and all attempts to identify a genetic etiology have been failing so far. In monozygotic twins, primarily in spontaneous twinning, there is a marked increase of Amyoplasia in one of the twins, the other twin being normal.…”

Section: What Is Arthrogryposis and How Common Is It?mentioning

confidence: 99%

“…In monozygotic twins, primarily in spontaneous twinning, there is a marked increase of Amyoplasia in one of the twins, the other twin being normal. 10 Hypoxic/vascular events, failure of anterior horn cell maturation and twinning mechanisms themselves are discussed as possible etiologic mechanisms. 10,11 Since twins are considered pregnancies at risk and get more attention and exams, Amypoplasia or other forms of arthrogryposis may be detected earlier and more frequently during pregnancy.…”

Section: What Is Arthrogryposis and How Common Is It?mentioning

confidence: 99%

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Fetal arthrogryposis—what do we tell the prospective parents?

et al. 2023

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Arthrogryposis, also termed arthrogryposis multiplex congenita, is a descriptive term for conditions with multiple congenital contractures (MCC). The etiology is extremely heterogeneous. More than 400 specific disorders have been identified so far, which may lead to or are associated with MCC and/or fetal hypo-and akinesia as a clinical sign. With improved sensitivity of prenatal ultrasound and expanding prenatal diagnostic options, clinicians are tasked with providing early detection in order to counsel the prospective parents regarding further prenatal diagnostic as well as management options. We summarize the most important knowledge to raise awareness for early detection in pregnancy. We review essential points for counseling when MCC is detected in order to provide answers to common questions, which, however, cannot replace interdisciplinary expert opinion in the individual case. Key pointsWhat's already known about this topic? � Arthrogryposis, also termed multiple congenital contractures, and fetal akinesia are often missed prenatally, but can be detected by ultrasound early when looked for.� The etiology is extremely heterogeneous. There are a number of challenges for achieving a definite diagnosis during pregnancy and appropriately counsel parents for prognosis and management. What does this review add?� This review serves as an update for prenatal providers who are charged with detecting, diagnosing and counseling on congenital contractures and/or fetal akinesia prenatally. � This article is not a substitute for interdisciplinary expert opinion, consultation and counseling in the individual patient or family. | INTRODUCTIONCongenital contractures in the newborn are not rare, ranging from 1/ 100 to 1/200 for some type of single contracture such as clubfoot and hip dislocation or multiple congenital contractures. The presence of multiple congenital contractures is generally termed arthrogryposis. Arthrogryposis, also called arthrogryposis multiplex congenita (AMC), or now referred to as multiple congenital contractures (MCC), is a descriptive term for conditions of a highly heterogeneous etiology, which may lead to or be associated with MCC as a clinical sign. 1,2 MCC, however, may have specific patterns of limb involvement and/or additional clinical signs pointing to the underlying etiology or even a specific diagnosis. The prognosis may substantially differ depending on the etiology. For pregnancy and family counseling the 798

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Section: What Is Arthrogryposis and How Common Is It?mentioning

confidence: 99%

Section: What Is Arthrogryposis and How Common Is It?mentioning

confidence: 99%

Section: What Is Arthrogryposis and How Common Is It?mentioning

confidence: 99%

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Fetal arthrogryposis—what do we tell the prospective parents?

et al. 2023

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“…As noted above, further unresolved recognizable patterns such as GLHS also exhibit overlapping features with these core RCEMs. Other recognizable sequences such as amyoplasia are also frequently associated with twinning (Hall, 2021a(Hall, , 2021b, and it is therefore likely that there are other patterns of malformations that may share these common mechanisms and should be studied together as a larger group to decode the full shared environmental, and potentially genetic factors underlying these important disorders.…”

Section: Unresolved Recognizable Patterns Of Malformationmentioning

confidence: 99%

Fifty years of recognizable patterns of human malformation: Insights and opportunities

Innes

Lynch

2021

American J of Med Genetics Pt A

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Now in its 7th edition, Smith's Recognizable Patterns of Human Malformation was first published in 1970. This 1st edition comprised 135 "dysmorphic syndromes of multiple primary defects" and 12 "single syndromic malformations resulting in secondary defects." Of the former, other than a few chromosomal and environmental disorders, most were heritable conditions of then unknown etiology. In 2021, the majority of these conditions are now "solved," a notable exception is Hallermann-Streiff syndrome. The "solved" conditions were typically clinically delineated decades prior to understanding the underlying etiology, which rarely required recent technologies such as exome sequencing (ES) to elucidate. The 7th edition includes nearly 300 syndromes, sequences, and associations. An increasing number of conditions first appearing in the latest editions are sporadic, with many solved using either array CGH or ES. We have reviewed all syndromes that have appeared in "Smith's" with a focus on inheritance, heterogeneity, and year and method of etiologic discovery. Several themes emerge. Genetic heterogeneity and pleiotropy of genes are frequent. Several of the currently "unresolved" syndromes are clinically diverse such as Dubowitz syndrome. Multiple recurrent constellations of embryonic malformations, with VACTERL association as a paradigm, are increasingly likely to have a shared pathogenesis requiring further study.

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“…It is also possible that events that caused the zygote to separate also caused one twin to have a defect in the BWS gene (Segal, 2017;Weksberg et al, 2002). Skewed X chromosome inactivation and 'overripe ova' have also been proposed as explanations for why MZ twinning occurs (Hall, 1996(Hall, , 2003(Hall, , 2021b. Interestingly, Hall reports that delayed fertilization has been linked to MZ twinning in rabbits, roe deer and frogs.…”

mentioning

confidence: 99%

Mysteries of Monozygosity: Theories and Breakthroughs/Twin Research: Rare Case of Lost Twins; Developing a National Twin Registry; Twins’ Language and Gesture Delays; DNA Testing for Vanishing Twins/Media Reports: Identical Twins Discordant for COVID Vaccination; World’s Oldest Identical Twins; Olympic Athlete Stand-in; Fraternal Twin Football Players

Segal

2021

Twin Res Hum Genet

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The processes that give rise to monozygotic (MZ) twins remain elusive. This article describes various theories of MZ twinning that have been examined over the years, although they continue to be speculative. It has also been impossible to know if a singleton began life as an MZ twin; however, a critical technological breakthrough can now reveal this important birth history information with a high degree of certainty. The section that follows presents reviews of current research regarding rare twin loss, development of a twin registry, twins’ communicative delays and DNA testing for vanishing twins. The article concludes with a survey of newsworthy twins, namely identical twins discordant for COVID vaccination, the world’s oldest identical twins, an Olympic athletic stand-in and fraternal twin football players.

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The mystery of monozygotic twinning II: What can monozygotic twinning tell us about Amyoplasia from a review of the various mechanisms and types of monozygotic twinning?

Cited by 6 publications

References 171 publications

Fetal arthrogryposis—what do we tell the prospective parents?

Fetal arthrogryposis—what do we tell the prospective parents?

Fifty years of recognizable patterns of human malformation: Insights and opportunities

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