Background: 

Deficiency of the radial aspect of the forearm and hand is the most common congenital longitudinal deficiency of the upper limb. Radial longitudinal deficiency is associated with several named syndromes. The purpose of the present study was to explore patterns of radial longitudinal deficiency and thumb hypoplasia in syndromes and to examine the severity of these differences across various syndromes.

Methods: 

Data were collected from the Congenital Upper Limb Differences (CoULD) registry. Congenital differences are classified in the registry with use of the Oberg-Manske-Tonkin (OMT) classification system. Diagnosis of a syndrome by a physician as noted in the CoULD registry was recorded. Thumb deficiency and radial deficiency were classified according to the modified versions of the Blauth criteria and the Bayne and Klug criteria, respectively.

Results: 

We identified 259 patients with 383 affected limbs with radial deficiency. Eighty-three of these patients had a diagnosed syndrome. The severity of radial deficiency was correlated with the severity of thumb deficiency. The Kendall tau coefficient indicated significant correlation between radial severity and thumb severity (tau = 0.49 [95% confidence interval = 0.40 to 0.57]; p < 0.05). Subjects with a syndrome were twice as likely to have bilateral deficiency and 2.5 times more likely to have both radial and thumb deficiency compared with subjects without a syndrome. Subjects with VACTERL syndrome (vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula, renal anomalies, and limb defects) had patterns of thumb and radial deficiency similar to the general cohort, whereas subjects with Holt-Oram syndrome, TAR (thrombocytopenia absent radius) syndrome, and Fanconi anemia demonstrated varied presentations of thumb and radial deficiency.

Conclusions: 

The present study investigated the characteristics of patients with radial longitudinal deficiency and thumb hypoplasia. Our results support the findings of previous research correlating the severity of radial deficiency with the severity of thumb deficiency. Furthermore, we identified characteristic features of patients with radial longitudinal deficiency and associated syndromes.

中文翻译：

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桡骨纵向缺陷与拇指发育不全的关联：使用 CoULD 注册表的更新。

 背景：

前臂和手的径向缺陷是上肢最常见的先天性纵向缺陷。径向纵向缺陷与几种命名的综合征有关。本研究的目的是探索综合症中径向纵向缺陷和拇指发育不全的模式，并检查各种综合症中这些差异的严重程度。

 方法：

数据收集自先天性上肢差异 (CoULD) 登记处。先天性差异在登记处使用 Oberg-Manske-Tonkin (OMT) 分类系统进行分类。记录 CoULD 登记中记录的医生对综合征的诊断。拇指缺损和桡骨缺损分别根据 Blauth 标准和 Bayne 和 Klug 标准的修改版本进行分类。

 结果：

我们确定了 259 名患者的 383 个受影响肢体患有桡骨缺陷。其中八十三名患者患有诊断综合症。桡骨缺陷的严重程度与拇指缺陷的严重程度相关。 Kendall tau 系数表明桡骨严重程度与拇指严重程度之间存在显着相关性（tau = 0.49 [95% 置信区间 = 0.40 至 0.57]；p < 0.05）。与没有综合症的受试者相比，患有综合症的受试者患有双侧缺陷的可能性是两倍，并且患有桡骨和拇指缺陷的可能性是2.5倍。 VACTERL 综合征（椎骨缺损、肛门闭锁、心脏异常、气管食管瘘、肾异常和肢体缺陷）受试者的拇指和桡骨缺陷模式与一般队列相似，而 Holt-Oram 综合征、TAR（血小板减少症，桡骨缺失）受试者的拇指和桡骨缺陷模式与一般队列相似。 ）综合征和范可尼贫血表现出不同的拇指和桡骨缺陷表现。

 结论：

本研究调查了桡骨纵向缺陷和拇指发育不全患者的特征。我们的结果支持了先前研究的结果，即桡骨缺陷的严重程度与拇指缺陷的严重程度相关。此外，我们还确定了径向纵向缺陷和相关综合征患者的特征。