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About 283 results

ALLMedicine™ Arthrogryposis Multiplex Congenita Center

Research & Reviews  112 results

Postnatal Diagnostic Workup in Children With Arthrogryposis: A Series of 82 Patients.
https://doi.org/10.1177/08830738211022972
Journal of Child Neurology; Chareyre J, Neuraz A et. al.

Aug 20th, 2021 - To describe a postnatal series of patients with arthrogryposis multiplex congenita by the causal mechanisms involved. In this single-center study, the local data warehouse was used to identify patients with arthrogryposis multiplex congenita. Pati...

Patient-Reported Outcome Measurement Information System (PROMIS) Scores in Pediatric Pa...
https://doi.org/10.1097/BPO.0000000000001933
Journal of Pediatric Orthopedics; Hyer LC, Carson LT et. al.

Aug 10th, 2021 - 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 while minimizing pain and disability. Few studies have explore...

A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome,...
https://doi.org/10.1080/13816810.2021.1923040
Ophthalmic Genetics; Godfrey D, Torres A et. al.

May 6th, 2021 - Background: Duane retraction syndrome and arthrogryposis multiplex congenita have an incidence of approximately 1:1500-1:3000 live births. However, the association of these two entities with a Marcus-Gunn might be a rare and, until now, under-reco...

Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotyp...
https://doi.org/10.1002/ajmg.a.62219
American Journal of Medical Genetics. Part A; Rosano KK, Wegner DJ et. al.

May 2nd, 2021 - Spinal muscular atrophy with congenital bone fractures 2 (SMABF2), a type of arthrogryposis multiplex congenita (AMC), is characterized by congenital joint contractures, prenatal fractures of long bones, and respiratory distress and results from b...

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
https://doi.org/10.1136/jmedgenet-2020-107595
Journal of Medical Genetics; Laquerriere A, Jaber D et. al.

Apr 7th, 2021 - Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate...

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Patient Education  1 results see all →