Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Department of Medical Genomics, King Faisal Specialist Hospital and Research Center and Faculty of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia.
Orphanet J Rare Dis. 2023 Jul 27;18(1):219. doi: 10.1186/s13023-023-02795-2.
Foramen magnum stenosis is a serious, and potentially life-threatening complication of achondroplasia. The foramen magnum is smaller in infants with achondroplasia, compared with the general population, and both restricted growth in the first 2 years and premature closure of skull plate synchondroses can contribute to narrowing. Narrowing of the foramen magnum can lead to compression of the brainstem and spinal cord, and result in sleep apnoea and sudden death. There is a lack of clarity in the literature on the timing of regular monitoring for foramen magnum stenosis, which assessments should be carried out and when regular screening should be ceased. The European Achondroplasia Forum (EAF) is a group of clinicians and patient advocates, representative of the achondroplasia community. Members of the EAF Steering Committee were invited to submit suggestions for guiding principles for the detection and management of foramen magnum stenosis, which were collated and discussed at an open workshop. Each principle was scrutinised for content and wording, and anonymous voting held to pass the principle and vote on the level of agreement. A total of six guiding principles were developed which incorporate routine clinical monitoring of infants and young children, timing of routine MRI screening, referral of suspected foramen magnum stenosis to a neurosurgeon, the combination of assessments to inform the decision to decompress the foramen magnum, joint decision making to proceed with decompression, and management of older children in whom previously undetected foramen magnum stenosis is identified. All principles achieved the ≥ 75% majority needed to pass (range 89-100%), with high levels of agreement (range 7.6-8.9). By developing guiding principles for the detection and management of foramen magnum stenosis, the EAF aim to enable infants and young children to receive optimal monitoring for this potentially life-threatening complication.
大孔狭窄是软骨发育不全的一种严重且潜在危及生命的并发症。与一般人群相比，软骨发育不全婴儿的大孔较小，并且在前 2 年内生长受限和颅骨板骺融合过早闭合都会导致狭窄。大孔狭窄可导致脑干和脊髓受压，导致睡眠呼吸暂停和猝死。文献中对于大孔狭窄定期监测的时间、应进行哪些评估以及何时停止常规筛查，缺乏明确性。欧洲软骨发育不全论坛（EAF）是一组临床医生和患者倡导者，代表了软骨发育不全社区。邀请 EAF 指导委员会成员提交有关检测和管理大孔狭窄的指导原则建议，并在公开研讨会上进行整理和讨论。每条原则都对其内容和措辞进行了审查，并进行了匿名投票，以通过原则并对同意程度进行投票。制定了总共 6 条指导原则，其中包括对婴儿和幼儿进行常规临床监测、常规 MRI 筛查的时间、将疑似大孔狭窄转介给神经外科医生、结合评估以告知决定是否减压大孔、联合决策是否进行减压以及管理以前未发现的大孔狭窄的大龄儿童。所有原则都达到了通过所需的≥75%多数（范围为 89-100%），并且具有很高的一致性（范围为 7.6-8.9）。通过制定大孔狭窄的检测和管理指导原则，EAF 旨在使婴儿和幼儿能够接受这种潜在危及生命的并发症的最佳监测。
