Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations

Arthrogryposis multiplex congenita (AMC) refers to a clinical presentation of congenital joint contractures involving two or more body areas. More than 400 distinct conditions may lead to AMC. We describe and analyze the diagnostic process of 125 children with AMC. Using these data and data from the literature, we set up evidenced-based recommendations for the diagnosis of the underlying cause in patients with AMC. We recommend a two-time diagnostic process: non-invasive investigations that aim at classifying patients into one of the three groups, then selected investigations targeting a subset of patients. Invasive investigations should be avoided because of their limited yield. (By Dr Pauline LE TANNO, https://jmg.bmj.com/content/early/2021/12/06/jmedgenet-2021-107823 )

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