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   Articles with "arthrogryposis" as a keyword



Congenital Zika Virus Infection: Beyond Neonatal Microcephaly.

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recommendations! Published in 2017 at "JAMA neurology"

DOI: 10.1001/jamaneurol.2017.0048

Abstract: Congenital Zika Virus Infection: Beyond Neonatal Microcephaly To the Editor In their timely description on the major central nervous system lesions caused by Zika virus (ZIKV) congenital infection, Melo et al1 reported on the neuroimaging,… read more here.

Keywords: congenital infection; infection; motor; zika virus ... See more keywords

Prenatal Diagnosis of SMPD4 loss - a neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies.

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recommendations! Published in 2023 at "Prenatal diagnosis"

DOI: 10.1002/pd.6324

Abstract: SMPD4 loss is a rare neurodevelopmental disorder that leads to severe mental and physical disability and early death in infancy. Most cases of this genetic condition have been diagnosed postnatally. This article focuses on the… read more here.

Keywords: smpd4 loss; neurodevelopmental disorder; loss; arthrogryposis ... See more keywords
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Neurogenic arthrogryposis and the power of phenotyping

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recommendations! Published in 2021 at "Neuromuscular Disorders"

DOI: 10.1016/j.nmd.2021.07.399

Abstract: In this article we review the commonest cause of neurogenic arthrogryposis, termed Spinal Muscular Atrophy Lower Extremity Dominant (SMALED), due to variants in DYNC1H1 and BICD2. We discuss the characteristic clinical and radiological phenotype of… read more here.

Keywords: arthrogryposis; arthrogryposis power; neurogenic arthrogryposis; power phenotyping ... See more keywords

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia

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recommendations! Published in 2024 at "Human Genome Variation"

DOI: 10.1038/s41439-024-00290-z

Abstract: Type 2 spinal muscular atrophy with lower extremity dominance (SMALED2) is caused by bicaudal D cargo adaptor 2 (BICD2) variants. However, the SMALED2 genotype and phenotype correlation have not been thoroughly characterized. We identified de… read more here.

Keywords: missense bicd2; arthrogryposis; bicd2; bicd2 variants ... See more keywords

Long term ophthalmic complications of distal arthrogryposis type 5D

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recommendations! Published in 2022 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2022.2141791

Abstract: ABSTRACT Background Distal Arthrogryposis type 5D (DA5D) is a rare genetic disease, expressed phenotypically by skeletal and ocular abnormalities. Materials and methods Two sisters, ages 42 and 46 years old, were ascertained, both diagnosed with arthrogryposis… read more here.

Keywords: long term; ophthalmic complications; arthrogryposis type; distal arthrogryposis ... See more keywords

Patient-Reported Outcome Measurement Information System (PROMIS) Scores in Pediatric Patients With Arthrogryposis

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recommendations! Published in 2021 at "Journal of Pediatric Orthopaedics"

DOI: 10.1097/bpo.0000000000001933

Abstract: Supplemental Digital Content is available in the text. Background: Arthrogryposis multiplex congenita (AMC) is a clinical term that is used to describe congenital contractures that lead to childhood deformities. Treatment aims are to maximize function… read more here.

Keywords: mobility; pain interference; patient reported; arthrogryposis ... See more keywords

The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis

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recommendations! Published in 2017 at "Cold Spring Harbor Molecular Case Studies"

DOI: 10.1101/mcs.a002063

Abstract: GLE1 encodes a protein important for mRNA export and appears to play roles in translation initiation and termination as well. Pathogenic variants in GLE1 mutations have been associated with lethal contracture syndrome and lethal arthrogryposis… read more here.

Keywords: horn cell; gle1 associated; motor; arthrogryposis ... See more keywords

A Splice Site Variant in SENP7 Results in a Severe Form of Arthrogryposis

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recommendations! Published in 2025 at "Clinical Genetics"

DOI: 10.1111/cge.14698

Abstract: Arthrogryposis multiplex congenita (AMC) is a heterogeneous disorder associated with 1/3000 to 1/5000 live births. We report a consanguineous family with multiple affected members with AMC and identified a recessive mutation in the highly conserved… read more here.

Keywords: arthrogryposis; splice site; site variant; variant senp7 ... See more keywords
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Mechanosensation and joint deformities

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recommendations! Published in 2023 at "Science"

DOI: 10.1126/science.adf6570

Abstract: Description Dysfunction of a mechanosensor in sensory neurons causes joint contracture Arthrogryposis is a condition that is characterized by limitation in the range of joint movement owing to shortening of connective tissue, tendon, and/or muscle.… read more here.

Keywords: mechanosensation joint; arthrogryposis; muscle; joint deformities ... See more keywords

Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development

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recommendations! Published in 2022 at "Journal of Child Neurology"

DOI: 10.1177/08830738211072694

Abstract: Background Expand the knowledge about the clinical phenotypes associated with pathogenic or likely pathogenic variants in the SCN1A gene. Methods The study was carried out in 15 patients with SCN1A variants. The complete phenotype of… read more here.

Keywords: phenotype; malformations cortical; cortical development; scn1a gene ... See more keywords

SAT-207 Impact of Growth Hormone Treatment on a 12 Year Old Female with Newly Diagnosed Panhypopituitarism and Distal Arthrogryposis

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recommendations! Published in 2025 at "Journal of the Endocrine Society"

DOI: 10.1210/jendso/bvaf149.1775

Abstract: Abstract Disclosure: M.E. Patterson: None. L. Meller: None. G. Akkad: None. Background: Panhypopituitarism, characterized by multiple pituitary hormone deficiencies, is generally diagnosed in infancy or early childhood. Panhypopituitarism is less commonly initially diagnosed in older… read more here.

Keywords: arthrogryposis; panhypopituitarism; year old; hormone ... See more keywords