Department of Orthopaedic Surgery, University of California, San Francisco, San Francisco, California.
School of Medicine, University of California, Davis, Sacramento, California.
J Bone Joint Surg Am. 2022 Jul 20;104(14):1301-1310. doi: 10.2106/JBJS.21.01286. Epub 2022 Apr 14.
Constriction band syndrome (CBS) is a congenital limb anomaly with varying presentation. We sought to characterize the clinical manifestations of CBS by analyzing a large cohort of patients. Our secondary aim was to evaluate potential risk factors for CBS.
We retrospectively reviewed the records for all patients with CBS who had presented to our tertiary medical center between 1998 and 2018. Examination by a pediatric orthopaedic surgeon and the presence of pathognomonic features were inclusion criteria. Clinical notes, photographs, and radiographs were reviewed to determine the pattern of limb involvement and associated conditions. Demographic data were compared with population averages to assess for possible risk factors.
One hundred and twenty-eight children were included. The most prevalent feature was constriction bands (96%), followed by limb or digit amputations (88%) and syndactyly/acrosyndactyly (69%). Children without constriction bands presented with either acrosyndactyly or growth of an osseous spike from a congenital diaphyseal limb or digit amputation. There was a strong predilection for involvement of central digits of the hands and feet, with sparing of the thumb/great toe and small finger/toe. The average number of involved limbs per child was 2.6; 23% of the children had involvement of only 1 limb. Children with at least 1 additional diagnosis had more limbs affected by CBS than those who were otherwise healthy (2 limbs [interquartile range (IQR), 1-3 limbs] versus 3 limbs [IQR, 2-4 limbs]; p = 0.006), suggesting a more severe phenotype. Children with more limbs involved underwent more surgical procedures (p < 0.001). CBS was associated with gestational trauma, prematurity, low birth weight, young and old maternal age, and higher social deprivation.
Children with CBS can be categorized as having either mild or extensive involvement based on the number of involved limbs and associated conditions. Future investigation of prenatal risk factors is necessary to further elucidate the etiology of this heterogenous condition.
Prognostic Level IV. See Instructions for Authors for a complete description of levels of evidence.
缩窄带综合征（CBS）是一种具有不同表现的先天性肢体异常。我们试图通过分析大量患者的病例来描述 CBS 的临床表现。我们的次要目的是评估 CBS 的潜在危险因素。
我们回顾性分析了 1998 年至 2018 年期间在我们的三级医疗中心就诊的所有 CBS 患者的病历。儿科矫形外科医生的检查和存在特征性表现是纳入标准。对临床记录、照片和 X 光片进行了审查，以确定肢体受累的模式和相关情况。将人口数据与人口平均值进行比较，以评估可能的危险因素。
共纳入 128 例患儿。最常见的特征是缩窄带（96%），其次是肢体或指/趾截肢（88%）和并指/蹼指（69%）。没有缩窄带的患儿表现为并指或从先天性骨干肢/趾截肢处生长出骨性刺。手和脚的中央指/趾有强烈的受累倾向，拇指/大脚趾和小手指/脚趾不受累。每个患儿受累的肢体平均为 2.6 个；23%的患儿只有 1 个肢体受累。至少有 1 个其他诊断的患儿的 CBS 受累肢体多于其他健康患儿（2 个肢体[四分位距（IQR），1-3 个肢体]与 3 个肢体[IQR，2-4 个肢体]；p=0.006），提示表型更严重。受累肢体较多的患儿接受了更多的手术治疗（p<0.001）。CBS 与围产期创伤、早产、低出生体重、母亲年龄小和大以及更高的社会剥夺有关。
根据受累肢体的数量和相关情况，可将 CBS 患儿分为轻度或广泛受累。需要进一步研究产前危险因素，以进一步阐明这种异质性疾病的病因。
预后 IV 级。请参阅作者须知，以获取完整的证据水平描述。
