Failure to identify antenatal multiple congenital contractures and fetal akinesia – proposal of guidelines to improve diagnosis

Filges, Isabel; Hall, Judith G.

doi:10.1002/pd.4011

Cited by 65 publications

(76 citation statements)

References 68 publications

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“…A list of known genes (Supplemental Table 1) was constructed from multiple online database resources (http:// www.omim.org/, http://www.mnglabs.com/tests/, http://www. ncbi.nlm.nih.gov/pubmed) or abstracted from recently published articles (2,3,(26)(27)(28)(29)(30)(31)(32)(33)(34)(35). Deleterious variants in the known arthrogryposis-associated genes were identified in 17 of 48 (35.4%) unrelated families (Table 1).…”

Section: Resultsmentioning

confidence: 99%

“…Disorders leading to fetal akinesia can result from abnormalities of the CNS, neuromuscular system, skeletal system, and connective and cartilage tissue disturbances. Maternal diseases or environmental factors such as intrauterine space limitations, maternal exposures to drugs or chemicals, compromise of blood supply to the fetus, and metabolic disturbances may also lead to fetal akinesia (2)(3)(4).…”

Section: Resultsmentioning

confidence: 99%

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Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

Bayram

Karaca

Akdemir

et al. 2016

Journal of Clinical Investigation

111

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

Bayram

Karaca

Akdemir

et al. 2016

Journal of Clinical Investigation

111

View full text Add to dashboard Cite

“…When disorders of the nervous system, neuromuscular system or connective tissues lead to arthrogryposis, there is usually a genetic origin, with a high degree of heredity (Filges and Hall, 2013). A list of the most frequent mutations leading to arthrogryposis is provided in Filges and Hall's paper from 2013.…”

Section: Risk Factorsmentioning

confidence: 99%

“…The condition is relatively rare, with an estimated incidence of between 1:3000 and 1:5000 (Lowry et al, 2010). Arthrogryposis is a clinical finding rather than a specific diagnosis, and is a feature of more than 300 different disorders (Bamshad et al, 2009;Filges and Hall, 2013). There are two broad types of arthrogryposis based on whether the newborn child has normal neurological function.…”

Section: Arthogryposis Aetiologymentioning

confidence: 99%

“…When normal neurological function is present, the arthrogryposis is likely to be due to a connective tissue disorder, amyoplasia, foetal crowding, or so-called distal arthrogryposis (Bamshad et al, 2009). Amyoplasia (lack of muscle growth) is a sporadic condition where limb muscles are partly or fully replaced by fatty-fibrous tissues (Hall et al, 2014), and is the most prevalent type of arthrogryposis, accounting for a third of all cases (Filges and Hall, 2013). The most common presentation of amyoplasia at birth is symmetric involvement of all four limbs with internally rotated shoulders, extended and pronated elbows, flexed wrists, stiff fingers with the thumbs positioned in the palm, dislocated hips, extended knees and severe equinovarus contractures (club foot) (Bamshad et al, 2009), as shown in Fig.…”

Section: Arthogryposis Aetiologymentioning

confidence: 99%

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Biomechanics of foetal movement

Nowlan¹

2015

eCM

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Foetal movements commence at seven weeks of gestation, with the foetal movement repertoire including twitches, whole body movements, stretches, isolated limb movements, breathing movements, head and neck movements, jaw movements (including yawning, sucking and swallowing) and hiccups by ten weeks of gestational age. There are two key biomechanical aspects to gross foetal movements; the first being that the foetus moves in a dynamically changing constrained physical environment in which the freedom to move becomes increasingly restricted with increasing foetal size and decreasing amniotic fluid. Therefore, the mechanical environment experienced by the foetus affects its ability to move freely. Secondly, the mechanical forces induced by foetal movements are crucial for normal skeletal development, as evidenced by a number of conditions and syndromes for which reduced or abnormal foetal movements are implicated, such as developmental dysplasia of the hip, arthrogryposis and foetal akinesia deformation sequence. This review examines both the biomechanical effects of the physical environment on foetal movements through discussion of intrauterine factors, such as space, foetal positioning and volume of amniotic fluid, and the biomechanical role of gross foetal movements in human skeletal development through investigation of the effects of abnormal movement on the bones and joints. This review also highlights computational simulations of foetal movements that attempt to determine the mechanical forces acting on the foetus as it moves. Finally, avenues for future research into foetal movement biomechanics are highlighted, which have potential impact for a diverse range of fields including foetal medicine, musculoskeletal disorders and tissue engineering.Keywords: Foetal movement, fetal movement, bone development, joint development, developmental dysplasia of the hip, arthrogryposis, biomechanical models, computational simulation, mechanical properties of foetal tissues, mechanical properties of fetal tissues.

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A vascular and thrombotic model of gastroschisis

Lubinsky¹

2014

American J of Med Genetics Pt A

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A binary vascular/thrombotic pathogenesis for gastroschisis, a form of congenital bowel herniation, is proposed, where normal right umbilical vein involution creates a possible site for thrombosis adjacent to the umbilical ring. If thrombosis occurs, it weakens the area, explaining overwhelmingly right-sided lesions. The model arises from the existence of two groups of risk factors with different maternal age associations. Older mothers show a greater association with vascular factors (although this may actually represent a lack of any significant maternal age effect), consistent with associations of gastroschisis with congenital heart lesions and with amyoplasia. Alternatively, other predispositions, and especially decreased maternal age, the greatest known risk factor, associate with factors raising maternal estrogen, with evidence that estrogen in turn acts here as a predisposition to thrombosis. Absorption of thrombotic by-products from the amniotic fluid can explain the unusual amniocyte inclusions that are common with gastroschisis, while a role for estrogens suggests a connection between rising gastroschisis prevalence and increasing environmental contamination with estrogen disruptors. This model explains a variety of structural and epidemiological findings, and suggests that stratification of data based on binary effects may clarify associated risks and mechanisms. The model also shows that what is often referred to as vascular disruption may actually reflect alternative or additional factors instead, including thrombosis as a primary mechanism.

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Failure to identify antenatal multiple congenital contractures and fetal akinesia – proposal of guidelines to improve diagnosis

Cited by 65 publications

References 68 publications

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

Biomechanics of foetal movement

A vascular and thrombotic model of gastroschisis

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