Schmitz Annette, Reutershahn Elke, Seiffert Peter, Das Marco
Klinik für Diagnostische und Interventionelle Radiologie, Helios Klinikum Duisburg, Dieselstraße 185, 47166, Duisburg, Germany.
Klinik für Kinder und Jugendliche/Perinatalzentrum, Helios Klinikum Duisburg, Dieselstraße 185, 47166, Duisburg, Germany.
Pediatr Radiol. 2023 Feb;53(2):244-248. doi: 10.1007/s00247-022-05493-6. Epub 2022 Aug 31.
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.
威廉姆斯-贝伦综合征是一种罕见的多系统遗传性疾病，活产儿发病率为1/7500。由于这些儿童常患有脊柱侧弯，他们会接受脊柱的常规影像学检查。在这些检查中，我们发现许多儿童的第一腰椎有额外的腰肋，且常伴有腰骶部移行椎。
描述威廉姆斯-贝伦综合征患儿额外肋骨和移行椎的发生率，并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，但在关于威廉姆斯-贝伦综合征的文献中尚未有描述。
2015年1月至2021年10月，我院收治了308例（男138例）威廉姆斯-贝伦综合征患者。其中，106例（男47例）接受了诊断性影像学检查，主要是因为怀疑有脊柱侧弯。88例患者进行了全脊柱全景X线片检查，18例患者进行了脊柱局部X线片、胸部X线片、CT、MRI或透视检查。我们回顾性分析了有关肋骨和椎骨数量的图像。我们将腰肋和移行椎的频率与文献中描述的普通人群进行了相关性分析。
在排除影像资料不充分的病例后，我们分析了91例患者的影像资料。其中，67例（73.6%）有13根肋骨，其中85%双侧均有，9%在右侧，6%在左侧。在67例有额外腰肋的患者中，38例（57%）也有移行椎。
第一腰椎出现额外腰肋，且常伴有腰骶部移行椎，在威廉姆斯-贝伦综合征患儿中很常见。
