Objective:

To describe a postnatal series of patients with arthrogryposis multiplex congenita by the causal mechanisms involved.

Methods:

In this single-center study, the local data warehouse was used to identify patients with arthrogryposis multiplex congenita. Patients were classified into different etiologic groups.

Results:

Of 82 patients included, the most frequent cause of arthrogryposis multiplex congenita was a neuromuscular disorder (39%), including skeletal muscle (n = 19), neuromuscular junction (n = 3), and peripheral nerve (n = 11) involvement. In other subgroups, 19 patients (23%) were classified by disorders in the central nervous system, 5 (6%) in connective tissue, 7 (8.5%) had mixed mechanisms, and 18 (22%) could not be classified. Contractures topography was not associated with a causal mechanism. Cerebral magnetic resonance imaging (MRI), electroneuromyography, and muscle biopsy were the most conclusive investigations. Metabolic investigations were normal in all the patients tested. Targeted or whole exome sequencing diagnostic rates were 51% and 71%, respectively. Thirty-three percent of patients died (early death occurred in patients with polyhydramnios, prematurity, and ventilatory dependency).

Discussion:

The benefits of a precise diagnosis in the neonatal period include more tailored management of arthrogryposis multiplex congenita and better genetic information.

中文翻译：

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关节弯曲儿童的产后诊断检查：82 例患者系列

客观的：

通过所涉及的因果机制来描述一系列产后多发性先天性关节弯曲症患者。

方法：

在这项单中心研究中，使用本地数据仓库来识别患有先天性多发性关节弯曲症的患者。患者被分为不同的病因组。

结果：

在纳入的 82 名患者中，多发性先天性关节弯曲最常见的原因是神经肌肉疾病 (39%)，包括骨骼肌 (n = 19)、神经肌肉接头 (n = 3) 和周围神经 (n = 11) 受累。在其他亚组中，19 名患者（23%）按中枢神经系统疾病分类，5 名（6%）在结缔组织中分类，7 名（8.5%）有混合机制，18 名（22%）无法分类。挛缩地形与因果机制无关。脑磁共振成像 (MRI)、神经肌电图和肌肉活检是最具决定性的研究。所有受试患者的代谢检查均正常。靶向或全外显子组测序诊断率分别为 51% 和 71%。

讨论：

在新生儿期进行精确诊断的好处包括对先天性多发性关节弯曲症进行更有针对性的管理和更好的遗传信息。