Neurooncology Unit, Santobono-Pausilipon Children's Hospital, AORN, Naples, Italy.
Clinical and Translational Research Unit, Santobono-Pausilipon Children's Hospital, AORN, Naples, Italy.
Childs Nerv Syst. 2024 Nov;40(11):3693-3700. doi: 10.1007/s00381-024-06555-w. Epub 2024 Aug 12.
Craniosynostosis (CRS) is a rare congenital cranial malformation in which 1 or more cranial or facial sutures are fused in utero or rapidly fused in early infancy. The cranial sutures separate the skull bone plates and enable rapid growth of the skull in the first 2 years of life, in which growth is largely dictated by growth of the brain. CRS is a rare disease that occurs in 1 in 2100 to 1 in 2500 births and may be either nonsyndromic (also referred to as isolated) or syndromic. In syndromic CRS, other birth defects are present next to the CRS. The distinction between nonsyndromic and syndromic manifestations is made on the basis of dysmorphologic evaluation and genetic evaluation. Owing to advances in genetic diagnostics, nonsyndromic patients are increasingly recognized as syndromic patients. CRS treatment is almost entirely surgical and is sometimes paired with postoperative helmet therapy for maintenance. Corrective procedures are complex, long, and associated with the risk of numerous complications, including heavy blood loss and its sequelae. Although surgery may restore a normal appearance, even in nonsyndromic patients, patients may experience persistent deficits in intellectual ability and cognitive function. The European Commission (EC) has prioritized rare diseases in recent horizon European research programs; indeed, collections or even individual samples may be extremely valuable for research.
Here, we present a study protocol in which the combined expertise of clinicians and researchers will be exploited to generate a biobank dedicated to CRS. The generation of the CRS biobank presented in this study will include the collection of different types of biological materials as well as advanced radiological images available to the scientific community.
The activation of a CRS biobank will provide an opportunity to improve translational research on CRS and to share its benefits with the scientific community and patients and their families.
颅缝早闭（CRS）是一种罕见的先天性颅骨畸形，其中 1 个或多个颅骨或面部缝线在子宫内融合或在婴儿早期迅速融合。颅骨缝线将颅骨骨板分开，并使颅骨在生命的头 2 年中快速生长，在此期间，生长主要由大脑的生长决定。CRS 是一种罕见的疾病，每 2100 至 2500 例出生中就有 1 例发生，可能是非综合征型（也称为孤立型）或综合征型。在综合征型 CRS 中，CRS 旁边还存在其他出生缺陷。非综合征型和综合征型表现之间的区别是基于畸形评估和基因评估做出的。由于遗传诊断的进步，非综合征型患者越来越被认为是综合征型患者。CRS 的治疗几乎完全是手术，有时与术后头盔治疗相结合以维持疗效。矫正手术复杂、漫长，并且存在许多并发症的风险，包括大量失血及其后遗症。尽管手术可以恢复正常外观，即使在非综合征型患者中也是如此，但患者可能会持续存在智力和认知功能的缺陷。欧盟委员会（EC）在最近的地平线欧洲研究计划中优先考虑了罕见疾病；实际上，对于研究来说，收集甚至单个样本可能都具有极高的价值。
在这里，我们提出了一项研究方案，该方案将利用临床医生和研究人员的综合专业知识，生成一个专门针对 CRS 的生物库。本研究中提出的 CRS 生物库的生成将包括收集不同类型的生物材料以及可供科学界使用的先进影像学图像。
CRS 生物库的建立将为改善 CRS 的转化研究提供机会，并将其收益与科学界以及患者及其家属共享。
