Abstract：
BACKGROUND: Phenotypic differences and functional limitations in children with congenital radial and ulnar longitudinal deficiencies (RLD/ULD) are well understood for the forearm and hand. However, anatomical features of shoulder elements in these pathologies have only been scarcely reported. Moreover, shoulder function has not been assessed in this patient population. Therefore, we aimed to define radiologic features and shoulder function of these patients at a large tertiary referral center.
METHODS: We prospectively enrolled all patients with RLD and ULD (minimum age: 7 years) for this study. Eighteen patients (12 RLD, 6 ULD) with a mean age of 17.9 years (range, 8.5-32.5) were evaluated using clinical examination (shoulder motion and stability), patient-reported outcome measures (Visual Analog Scale, Pediatric/Adolescent Shoulder Survey, Pediatric Outcomes Data Collection Instrument), and radiologic grading of shoulder dysplasia (including length and width discrepancy of the humerus, glenoid dysplasia in the anteroposterior and axial view [Waters classification], and scapular and acromioclavicular dysplasia assessment). Descriptive statistics and Spearman correlation analyses were performed.
RESULTS: Despite five (28%) cases having anterioposterior shoulder instability and five (28%) cases with decreased motion, outcome scores indicated an overall excellent function of the shoulder girdle, with mean Visual Analog Scale of 0.3 (range, 0-5), mean Pediatric/Adolescent Shoulder Survey of 97 (range, 75-100), and mean Pediatric Outcomes Data Collection Instrument Global Functioning Scale of 93 (range, 76-100). The humerus was, on average, 15 mm shorter (range, 0-75), and metaphyseal and diaphyseal diameters both reached 94% of the contralateral side. Glenoid dysplasia was detected in nine (50%) cases, with increased retroversion evident in 10 (56%) cases. However, scapular (n = 2) and acromioclavicular (n = 1) dysplasia were rare. Based on radiographic findings, a radiologic classification system for dysplasia types IA, IB, and II was developed.
CONCLUSIONS: Adolescent and adult patients with longitudinal deficiencies exhibit various mild-to-severe radiologic abnormalities around the shoulder girdle. Nevertheless, these findings did not seem to negatively affect shoulder function as the overall outcome scores were excellent.
METHODS: We prospectively enrolled all patients with RLD and ULD (minimum age: 7 years) for this study. Eighteen patients (12 RLD, 6 ULD) with a mean age of 17.9 years (range, 8.5-32.5) were evaluated using clinical examination (shoulder motion and stability), patient-reported outcome measures (Visual Analog Scale, Pediatric/Adolescent Shoulder Survey, Pediatric Outcomes Data Collection Instrument), and radiologic grading of shoulder dysplasia (including length and width discrepancy of the humerus, glenoid dysplasia in the anteroposterior and axial view [Waters classification], and scapular and acromioclavicular dysplasia assessment). Descriptive statistics and Spearman correlation analyses were performed.
RESULTS: Despite five (28%) cases having anterioposterior shoulder instability and five (28%) cases with decreased motion, outcome scores indicated an overall excellent function of the shoulder girdle, with mean Visual Analog Scale of 0.3 (range, 0-5), mean Pediatric/Adolescent Shoulder Survey of 97 (range, 75-100), and mean Pediatric Outcomes Data Collection Instrument Global Functioning Scale of 93 (range, 76-100). The humerus was, on average, 15 mm shorter (range, 0-75), and metaphyseal and diaphyseal diameters both reached 94% of the contralateral side. Glenoid dysplasia was detected in nine (50%) cases, with increased retroversion evident in 10 (56%) cases. However, scapular (n = 2) and acromioclavicular (n = 1) dysplasia were rare. Based on radiographic findings, a radiologic classification system for dysplasia types IA, IB, and II was developed.
CONCLUSIONS: Adolescent and adult patients with longitudinal deficiencies exhibit various mild-to-severe radiologic abnormalities around the shoulder girdle. Nevertheless, these findings did not seem to negatively affect shoulder function as the overall outcome scores were excellent.
摘要：
背景：患有先天性桡骨和尺骨纵向缺陷（RLD/ULD）的儿童的表型差异和功能局限性在前臂和手都很清楚。然而,这些病理中肩部元素的解剖特征几乎没有报道。此外，在该患者人群中尚未评估肩关节功能.因此,我们的目的是在大型三级转诊中心确定这些患者的影像学特征和肩关节功能.
方法：我们前瞻性招募了所有患有RLD和ULD（最小年龄：7岁）的患者。18名患者（12名RLD，6ULD)，平均年龄为17.9岁(范围，8.5-32.5）使用临床检查（肩部运动和稳定性）进行评估，患者报告的结果测量(视觉模拟量表，儿科/青少年肩部调查，儿科结果数据收集仪器)，肩关节发育不良的放射学分级（包括肱骨的长度和宽度差异，前位和轴位视图中的关节盂发育不良[Waters分类]，肩胛骨和肩锁骨发育不良评估）。进行描述性统计和Spearman相关性分析。
结果：尽管有5例（28%）肩关节前后不稳和5例（28%）关节活动度下降，结果评分表明肩带整体功能优异，平均视觉模拟量为0.3(范围，0-5),平均儿科/青少年肩部调查97(范围，75-100),和平均儿科结果数据收集仪器全球功能量表93(范围，76-100).肱骨是，平均而言,短15毫米(范围,0-75），干phy端和骨干端直径均达到对侧的94％。在9例（50％）病例中发现了关节盂发育不良，在10例（56％）中明显增加了逆行。然而,肩胛骨（n=2）和肩锁骨（n=1）发育不良罕见。根据射线照相结果,IA型发育不良的放射学分类系统，IB,II被开发出来了。
结论：青少年和成人纵向缺陷患者在肩带周围表现出各种轻度至重度的放射学异常。然而，这些结果似乎并未对肩关节功能产生负面影响,因为总体结局评分优异.
方法：我们前瞻性招募了所有患有RLD和ULD（最小年龄：7岁）的患者。18名患者（12名RLD，6ULD)，平均年龄为17.9岁(范围，8.5-32.5）使用临床检查（肩部运动和稳定性）进行评估，患者报告的结果测量(视觉模拟量表，儿科/青少年肩部调查，儿科结果数据收集仪器)，肩关节发育不良的放射学分级（包括肱骨的长度和宽度差异，前位和轴位视图中的关节盂发育不良[Waters分类]，肩胛骨和肩锁骨发育不良评估）。进行描述性统计和Spearman相关性分析。
结果：尽管有5例（28%）肩关节前后不稳和5例（28%）关节活动度下降，结果评分表明肩带整体功能优异，平均视觉模拟量为0.3(范围，0-5),平均儿科/青少年肩部调查97(范围，75-100),和平均儿科结果数据收集仪器全球功能量表93(范围，76-100).肱骨是，平均而言,短15毫米(范围,0-75），干phy端和骨干端直径均达到对侧的94％。在9例（50％）病例中发现了关节盂发育不良，在10例（56％）中明显增加了逆行。然而,肩胛骨（n=2）和肩锁骨（n=1）发育不良罕见。根据射线照相结果,IA型发育不良的放射学分类系统，IB,II被开发出来了。
结论：青少年和成人纵向缺陷患者在肩带周围表现出各种轻度至重度的放射学异常。然而，这些结果似乎并未对肩关节功能产生负面影响,因为总体结局评分优异.
