Background: 

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.

Methods: 

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.

Results: 

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.

Conclusions: 

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.

Level of Evidence: 

Prognostic Level IV. See Instructions for Authors for a complete description of levels of evidence.

中文翻译：

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缩窄带综合征的临床表现

背景： 

缩窄带综合征 (CBS) 是一种先天性肢体异常，具有不同的表现。我们试图通过分析大量患者来描述 CBS 的临床表现。我们的次要目标是评估 CBS 的潜在危险因素。

方法： 

我们回顾性审查了 1998 年至 2018 年间在我们的三级医疗中心就诊的所有 CBS 患者的记录。由儿科整形外科医生进行的检查和特征性特征的存在是纳入标准。审查临床记录、照片和 X 光片以确定肢体受累的模式和相关情况。将人口统计数据与人口平均值进行比较，以评估可能的风险因素。

结果： 

包括一百二十八名儿童。最普遍的特征是收缩带 (96%)，其次是肢体或手指截肢 (88%) 和并指/趾端 (69%)。没有收缩带的儿童表现为先天性骨干肢体或手指截肢导致的指尖或骨棘突的生长。强烈偏爱手和脚的中央手指，拇指/大脚趾和小指/脚趾不受影响。每名儿童平均受累肢体数为 2.6；23% 的儿童仅累及 1 个肢体。至少有 1 项额外诊断的儿童比其他方面健康的儿童受 CBS 影响的肢体更多（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） ，表明更严重的表型。四肢更多的儿童接受了更多的外科手术（p < 0.001）。CBS 与妊娠创伤、早产、低出生体重、年轻和老年产妇年龄以及更高的社会剥夺有关。

结论： 

根据受累肢体的数量和相关情况，CBS 患儿可分为轻度或广泛受累。未来对产前危险因素的调查对于进一步阐明这种异质性疾病的病因是必要的。

证据等级： 

预后级别 IV。有关证据级别的完整描述，请参见作者说明。