Abstract：
Williams-Beuren syndrome is a rare multisystemic genetic disorder with an incidence of 1 in 7,500 live births. Because these children often have scoliosis, they undergo routine radiographic examinations of the spine. During these examinations we have found many children with supernumerary lumbar ribs arising from the first lumbar vertebra, often associated with lumbosacral transitional vertebrae.
To describe the incidence of supernumerary ribs and transitional vertebrae in children with Williams-Beuren syndrome and compare it to the incidence in a general population. Our hypothesis is that these findings are common, but they have not been described in the literature concerning Williams-Beuren syndrome.
From January 2015 to October 2021, 308 patients (138 male) with Williams-Beuren syndrome were treated at our hospital. Of these, 106 (47 male) underwent diagnostic imaging, mostly for suspected scoliosis. Panoramic radiographs of the whole spine were performed in 88 patients and radiographs of regions of the spine, chest radiographs, CT, MRI or fluoroscopy in 18 patients. We retrospectively analysed the images concerning the number of ribs and vertebrae. We correlated the frequency of lumbar ribs and transitional vertebrae in comparison to a general population as described in the literature.
After exclusions for insufficient imaging, we analysed imaging in 91 patients. Of these, 67 patients (73.6%) had 13 ribs, of which 85% were located on both sides, 9% on the right and 6% on the left side. Of the 67 patients with supernumerary lumbar ribs, 38 (57%) also had transitional vertebrae.
Supernumerary lumbar ribs arising from the first lumbar vertebra, often accompanied by lumbosacral transitional vertebrae, are common in children with Williams-Beuren syndrome.
To describe the incidence of supernumerary ribs and transitional vertebrae in children with Williams-Beuren syndrome and compare it to the incidence in a general population. Our hypothesis is that these findings are common, but they have not been described in the literature concerning Williams-Beuren syndrome.
From January 2015 to October 2021, 308 patients (138 male) with Williams-Beuren syndrome were treated at our hospital. Of these, 106 (47 male) underwent diagnostic imaging, mostly for suspected scoliosis. Panoramic radiographs of the whole spine were performed in 88 patients and radiographs of regions of the spine, chest radiographs, CT, MRI or fluoroscopy in 18 patients. We retrospectively analysed the images concerning the number of ribs and vertebrae. We correlated the frequency of lumbar ribs and transitional vertebrae in comparison to a general population as described in the literature.
After exclusions for insufficient imaging, we analysed imaging in 91 patients. Of these, 67 patients (73.6%) had 13 ribs, of which 85% were located on both sides, 9% on the right and 6% on the left side. Of the 67 patients with supernumerary lumbar ribs, 38 (57%) also had transitional vertebrae.
Supernumerary lumbar ribs arising from the first lumbar vertebra, often accompanied by lumbosacral transitional vertebrae, are common in children with Williams-Beuren syndrome.
摘要：
背景：Williams-Beuren综合征是一种罕见的多系统遗传病，发病率为7,500例活产中的1例。因为这些孩子经常有脊柱侧弯，他们接受脊柱的常规射线照相检查。在这些检查中，我们发现许多儿童的多余腰肋骨来自第一个腰椎，常伴有腰骶移行椎骨。
目的：描述Williams-Beuren综合征儿童中多余肋骨和移行椎骨的发生率，并将其与普通人群的发生率进行比较。我们的假设是这些发现很常见，但在有关Williams-Beuren综合征的文献中还没有描述过.
方法：2015年1月至2021年10月，我院收治Williams-Beuren综合征患者308例（男性138例）。其中,106名（47名男性）接受了诊断成像，大部分用于疑似脊柱侧弯.对88例患者进行了整个脊柱的全景X线照片和脊柱区域的X线照片，胸部X光片,CT,MRI或透视18例。我们回顾性分析了有关肋骨和椎骨数量的图像。与文献中描述的一般人群相比，我们将腰肋骨和移行椎骨的频率相关联。
结果：排除成像不足后，我们分析了91例患者的影像学表现.其中,67例（73.6%）有13根肋骨，其中85%位于两边，9%在右边，6%在左边。67例腰椎多排患者中,38(57%)也有移行椎骨。
结论：第1腰椎产生的多余腰椎肋骨，常伴有腰骶移行椎骨，常见于Williams-Beuren综合征儿童。
目的：描述Williams-Beuren综合征儿童中多余肋骨和移行椎骨的发生率，并将其与普通人群的发生率进行比较。我们的假设是这些发现很常见，但在有关Williams-Beuren综合征的文献中还没有描述过.
方法：2015年1月至2021年10月，我院收治Williams-Beuren综合征患者308例（男性138例）。其中,106名（47名男性）接受了诊断成像，大部分用于疑似脊柱侧弯.对88例患者进行了整个脊柱的全景X线照片和脊柱区域的X线照片，胸部X光片,CT,MRI或透视18例。我们回顾性分析了有关肋骨和椎骨数量的图像。与文献中描述的一般人群相比，我们将腰肋骨和移行椎骨的频率相关联。
结果：排除成像不足后，我们分析了91例患者的影像学表现.其中,67例（73.6%）有13根肋骨，其中85%位于两边，9%在右边，6%在左边。67例腰椎多排患者中,38(57%)也有移行椎骨。
结论：第1腰椎产生的多余腰椎肋骨，常伴有腰骶移行椎骨，常见于Williams-Beuren综合征儿童。
