(Q38072356)

28 August 2017

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title

Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis (English)

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28 August 2017

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Judith G Hall

2

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author name string

Isabel Filges

series ordinal

1

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28 August 2017

publication date

1 January 2013

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28 August 2017

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28 August 2017

volume

33

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28 August 2017

issue

1

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28 August 2017

page(s)

61-74

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

28 August 2017

cites work

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The emergence of fetal behaviour. II. Quantitative aspects.

21 January 2018

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Fetal movement patterns: a possible means of defining neurologic developmental milestones in utero

21 January 2018

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Putative neural substrate of normal and abnormal general movements

21 January 2018

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Do facial expressions develop before birth?

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Changes in fetal motility as a result of congenital disorders: an overview

21 January 2018

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Muscle deficiency and neonatal death in mice with a targeted mutation in the myogenin gene

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A crucial role for Pax3 in the development of the hypaxial musculature and the long-range migration of muscle precursors.

21 January 2018

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Muscle contraction is necessary to maintain joint progenitor cell fate

21 January 2018

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Developing bones are differentially affected by compromised skeletal muscle formation.

21 January 2018

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Is neurological assessment of the fetus possible?

21 January 2018

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The assessment of fetal neurobehavior by three-dimensional and four-dimensional ultrasound

21 January 2018

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The assessment of fetal behavior in early pregnancy: comparison between 2D and 4D sonographic scanning

21 January 2018

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Fetal hand movements and facial expression in normal pregnancy studied by four-dimensional sonography.

21 January 2018

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Ultrasound evaluation of fetal brain dysfunction based on behavioral patterns.

21 January 2018

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The skeleton and musculature on foetal MRI.

21 January 2018

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MR imaging of the fetal musculoskeletal system

21 January 2018

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21 January 2018

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Methods of fetal MR: beyond T2-weighted imaging

21 January 2018

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Normal standards for fetal neurobehavioral developments--longitudinal quantification by four-dimensional sonography

21 January 2018

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Early pregnancy scanning for fetal anomalies--the new standard?

21 January 2018

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The distal arthrogryposes: delineation of new entities--review and nosologic discussion

21 January 2018

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Arthrogryposis: a review and update

21 January 2018

1 reference

A revised and extended classification of the distal arthrogryposes

21 January 2018

1 reference

Prenatal diagnosis of distal arthrogryposis

21 January 2018

1 reference

Clinical characteristics and natural history of Freeman-Sheldon syndrome

21 January 2018

1 reference

Prenatal sonographic diagnosis of skeletal dysplasias

21 January 2018

1 reference

Fetal akinesia: review of the genetics of the neuromuscular causes

21 January 2018

1 reference

Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited

21 January 2018

1 reference

Arthrogryposis multiplex congenita and Pena-Shokeir phenotype: challenge of prenatal diagnosis--report of 21 cases, antenatal findings and review

21 January 2018

1 reference

Ultrasound diagnosis of the Pena Shokeir phenotype at 14 weeks of pregnancy

21 January 2018

1 reference

A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis

21 January 2018

1 reference

A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures

21 January 2018

1 reference

Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus

21 January 2018

1 reference

Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome

21 January 2018

1 reference

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

21 January 2018

1 reference

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

21 January 2018

1 reference

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

21 January 2018

1 reference

A TNNI2 mutation in a family with distal arthrogryposis type 2B.

21 January 2018

1 reference

Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B

21 January 2018

1 reference

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

21 January 2018

1 reference

Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway

21 January 2018

1 reference

Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway

21 January 2018

1 reference

Part I. Amyoplasia: A common, sporadic condition with congenital contractures

21 January 2018

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Part II. Amyoplasia: Twinning in amyoplasia—a specific type of arthrogryposis with an apparent excess of discordantly affected identical twins

21 January 2018

1 reference

Association of amyoplasia with gastroschisis, bowel atresia, and defects of the muscular layer of the trunk

21 January 2018

1 reference

The lethal multiple pterygium syndromes

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/PD.4011

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28 August 2017

1 reference