Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding

Lowry, R. Brian; Sibbald, Barbara; Bedard, Tanya; Hall, Judith G.

doi:10.1002/bdra.20738

Cited by 114 publications

(92 citation statements)

References 11 publications

(12 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The term is used to describe patients in whom joints in two or more body parts are abnormally angled or bent. 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).…”

Section: Arthogryposis Aetiologymentioning

confidence: 99%

Biomechanics of foetal movement

Nowlan¹

2015

eCM

View full text Add to dashboard Cite

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.

show abstract

Section: Arthogryposis Aetiologymentioning

confidence: 99%

Biomechanics of foetal movement

Nowlan¹

2015

eCM

View full text Add to dashboard Cite

show abstract

“…It should be distinguished from isolated congenital contractures that affect a single joint such as congenital clubfoot deformity or dislocated hip. Arthrogryposis is a symptom rather than a specific diagnosis and occurs in between 1/3,000-1/5,000 live births (1). To date, more…”

Section: Introductionmentioning

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

“…In the group with multiple anomalies including skeletal malformations detected on antenatal USG, infantogram allowed clinching the syndromic diagnosis in five cases (sirenomelia, Roberts syndrome, and caudal regression syndrome and two cases of iniencephaly), and correlated with ultrasound and autopsy in two cases. Thus, specifically for suspected cases of skeletal malformations, postnatal radiograph (part of autopsy) is mandatory [1,[10][11][12].…”

Section: Discussionmentioning

confidence: 99%

At Least an Infantogram if not Perinatal Autopsy

Deka

Naha

Dadhwal

et al. 2014

Journal of Fetal Medicine

View full text Add to dashboard Cite

To study the feasibility and value of postmortem fetal infantogram (X-ray film) in pregnancies terminated for prenatally diagnosed fetal congenital malformations and stillborn fetuses with congenital anomalies. Forty-two fetuses were diagnosed antenatally by ultrasonography to have fetal congenital malformation, 36 couples opted for medical termination of pregnancy (MTP) and intrauterine death (IUD) occurred in six cases. Informed written consent for autopsy including infantogram was given by 41 couples, one couple permitted only radiographs. On infantogram, the antenatal ultrasound diagnoses were confirmed in all the cases of central nervous system anomalies, but were not useful for genitourinary anomalies or cardiac anomalies. In five cases of antenatally suspected skeletal anomalies, radiographs changed the diagnosis of thanatophoric dwarf to osteogenesis imperfecta type llC in one case and achondrogenesis type 1B in another case. Infantogram made the syndromic diagnosis in three cases-sirenomelia, Roberts syndrome and caudal regression syndrome. Congenital diaphragmatic hernia was diagnosed at infantogram in a case missed on ultrasound. In three cases of nonimmune hydrops, X-ray films correlated with ultrasound findings, but could not find the cause. If autopsy, the 'goal standard' test is refused or cannot be done, at least an infantogram should routinely be done in pregnancies terminated for prenatally diagnosed fetal congenital malformations and stillborn fetuses with congenital anomalies, as it is noninvasive, easily available and consent given. It may change the diagnosis and counseling for future pregnancies, hence very useful in perinatal medicine.

show abstract

Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding

Cited by 114 publications

References 11 publications

Biomechanics of foetal movement

Biomechanics of foetal movement

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

At Least an Infantogram if not Perinatal Autopsy

Contact Info

Product

Resources

About