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首页> 外文期刊>American journal of medical genetics, Part A >Club foot in association with the 22q11.2 deletion syndrome: An observational study
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Club foot in association with the 22q11.2 deletion syndrome: An observational study

机译：与22Q11.2删除综合征有关的俱乐部脚：一个观察研究

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The 22q11.2 Deletion Syndrome (22q11.2DS) occurs in ~1:3,000–6,000 individuals. Features less typically associated with 22q11.2DS, such as orthopedic manifestations, may be overlooked or may not lead to appropriate diagnostic testing. Club foot has a general population prevalence of ~1:1,000 and has been occasionally described in association with 22q11.2DS. Our hypothesis is that the prevalence of club foot is higher in patients with 22q11.2DS. We performed a retrospective review in two specialized 22q11.2DS centers to determine the prevalence of club foot. “True club foot” requires treatment (either conservative or surgical), therefore we only included those patients with proof of treatment. We investigated whether congenital heart disease (CHD) and/or cleft palate were associated with the presence of club foot within 22q11.2DS. The records of 1,466 patients were reviewed. Of these, 48 (3.3%) had confirmation of club foot (95% Confidence Interval: 2.4–4.3): 22 (46%) had a bilateral, 12 (25%) left, and 14 (29%) right club foot. Within our study, neither a CHD and/or a cleft palate were associated with a club foot. The prevalence of club foot in 22q11.2DS is 30 times higher than that observed in the general population. This suggests the diagnosis of club foot, especially in the face of other typically associated abnormalities of 22q11.2DS, should provoke consideration of 22q11.2DS as an underlying diagnosis, particularly in the neonatal setting.
机译：22Q11.2删除综合征（22Q11.2DS）发生在〜1：3,000-6,000个人中。通常与22Q11.2DS的特征较少，例如矫形表现，可能被忽视或可能不会导致适当的诊断测试。俱乐部脚的一般人口普遍存在〜1：1,000，并且偶尔会与22Q11.2DS结合进行描述。我们的假设是，22季度患者俱乐部脚的患病率较高。我们在两个专门的22Q11.2DS中心进行了回顾性审查，以确定俱乐部脚的普遍存在。 “真正的俱乐部脚”需要治疗（保守或外科手术），因此我们只包括那些患者治疗证明。我们调查了先天性心脏病（CHD）和/或腭裂是否与俱乐部脚的存在有关。审查了1,466名患者的记录。其中48（3.3％）对俱乐部脚进行了确认（95％置信区间：2.4-4.3）：22（46％）左侧，12（25％），14（29％）右俱乐部脚。在我们的研究中，CHD和/或腭裂既不与俱乐部脚有关。 22Q11.2DS在22Q11.2DS中的俱乐部脚的患病率比一般人群中观察到的30倍。这表明俱乐部脚的诊断，特别是在面对22Q11.2DS的其他通常相关异常的面对面，应挑选22Q11.2DS作为潜在诊断的潜在诊断，特别是在新生儿环境中。

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