Abstract：
OBJECTIVE: To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies, Ulceration, spinal cord Malformations, Bony defects, Anorectal malformations, Arterial anomalies and/or Renal anomalies.
METHODS: These diagnostic criteria were developed by an expert multidisciplinary and multi-institutional team based on analysis of peer-reviewed data, followed by electronic-Delphi consensus of a panel of 61 international pediatric specialists.
RESULTS: After 2 Delphi rounds, a 92% or higher level of agreement was reached for each Delphi statement. 98% of panelists agreed with the diagnostic criteria, and 100% agreed the criteria would be useful in clinical practice. The diagnosis of LUMBAR requires the presence of a segmental, or patterned, infantile hemangioma of the lumbosacral, sacrococcygeal, or pelvic cutaneous regions plus one additional criterion of the urogenital, spinal, bony, anorectal, arterial, or renal organ systems.
CONCLUSIONS: These diagnostic criteria will enhance clinical care by improving screening, detection, and overall awareness of this poorly understood neurocutaneous disorder. The criteria can be utilized by a wide variety of pediatric subspecialists. In addition, formal criteria will improve phenotypic uniformity among LUMBAR syndrome cohorts and a patient registry, allowing investigators to assess clinical features, long-term outcomes, and results of genetic sequencing in a standardized manner. Finally, these criteria will serve as a starting point for prospective studies to establish formal screening and management guidelines.
METHODS: These diagnostic criteria were developed by an expert multidisciplinary and multi-institutional team based on analysis of peer-reviewed data, followed by electronic-Delphi consensus of a panel of 61 international pediatric specialists.
RESULTS: After 2 Delphi rounds, a 92% or higher level of agreement was reached for each Delphi statement. 98% of panelists agreed with the diagnostic criteria, and 100% agreed the criteria would be useful in clinical practice. The diagnosis of LUMBAR requires the presence of a segmental, or patterned, infantile hemangioma of the lumbosacral, sacrococcygeal, or pelvic cutaneous regions plus one additional criterion of the urogenital, spinal, bony, anorectal, arterial, or renal organ systems.
CONCLUSIONS: These diagnostic criteria will enhance clinical care by improving screening, detection, and overall awareness of this poorly understood neurocutaneous disorder. The criteria can be utilized by a wide variety of pediatric subspecialists. In addition, formal criteria will improve phenotypic uniformity among LUMBAR syndrome cohorts and a patient registry, allowing investigators to assess clinical features, long-term outcomes, and results of genetic sequencing in a standardized manner. Finally, these criteria will serve as a starting point for prospective studies to establish formal screening and management guidelines.
摘要：
目的：就腰椎综合征的诊断标准达成共识，影响下半身的节段性婴儿血管瘤与泌尿生殖器异常的关联，溃疡,脊髓畸形,Bony缺陷,肛门直肠畸形,动脉异常和/或肾脏异常。
方法：这些诊断标准是由多学科和多机构专家小组根据对同行评审数据的分析制定的，随后是由61名国际儿科专家组成的专家小组的electronic-Delphi共识。
结果：经过两轮Delphi，每个Delphi声明达成了92%或更高的协议。98%的小组成员同意诊断标准，100％同意该标准将在临床实践中有用。腰椎的诊断需要一个节段的存在，或有图案，小儿腰骶血管瘤，骶尾部,或骨盆皮肤区域加上泌尿生殖系统的一个额外标准，脊柱,骨，肛门直肠,动脉，或肾器官系统。
结论：这些诊断标准将通过改善筛查来增强临床护理，检测,以及对这种知之甚少的神经皮肤疾病的整体认识。该标准可以由各种各样的儿科专科医生使用。此外,正式标准将改善LUMBAR综合征队列和患者登记的表型一致性，允许研究者评估临床特征，长期结果，和标准化的基因测序结果。最后,这些标准将作为前瞻性研究建立正式筛查和管理指南的起点.
方法：这些诊断标准是由多学科和多机构专家小组根据对同行评审数据的分析制定的，随后是由61名国际儿科专家组成的专家小组的electronic-Delphi共识。
结果：经过两轮Delphi，每个Delphi声明达成了92%或更高的协议。98%的小组成员同意诊断标准，100％同意该标准将在临床实践中有用。腰椎的诊断需要一个节段的存在，或有图案，小儿腰骶血管瘤，骶尾部,或骨盆皮肤区域加上泌尿生殖系统的一个额外标准，脊柱,骨，肛门直肠,动脉，或肾器官系统。
结论：这些诊断标准将通过改善筛查来增强临床护理，检测,以及对这种知之甚少的神经皮肤疾病的整体认识。该标准可以由各种各样的儿科专科医生使用。此外,正式标准将改善LUMBAR综合征队列和患者登记的表型一致性，允许研究者评估临床特征，长期结果，和标准化的基因测序结果。最后,这些标准将作为前瞻性研究建立正式筛查和管理指南的起点.
