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Abstract：
BACKGROUND: Ellis-van Creveld is a dwarfing syndrome transmitted as an autosomal recessive trait. The constant features of the condition include acromelic-micromelic dwarfism, ectodermal dysplasia involving the nails, teeth and gums, postaxial polydactyly of the hands and congenital heart disease. Congenital heart disease affects 50-60 % of all patients and nearly 50 % of patients die by 18 months of age from cardiopulmonary complications. This study is intended to characterise the orthopaedic manifestations of Ellis-van Creveld based on the authors\' unique opportunity to interview and examine the largest group of patients to date in the literature.
METHODS: Detailed interviews, physical examinations and/or radiographs were available on 71 cases of Ellis-van Creveld syndrome. Data were collected from physical examinations, radiographs, computed tomography (CT) reconstruction and magnetic resonance imaging (MRI) of the knee. Pathoanatomy of the knee was reinforced by the direct surgical observation of 25 limbs surgically managed during adolescence and puberty.
RESULTS: A number of interesting clinical and radiographic abnormalities were noted in the upper extremities and lower extremities, but by far the most significant orthopaedic finding was a severe and relentlessly progressive valgus deformity of the knee. Although many patients had difficulties making a \"fist\" with the hand, no patient reported any functional disability. The severe valgus deformity of the knee is the result of a combination of profound contractures of the iliotibial band, lateral quadriceps, lateral hamstrings and lateral collateral ligament, leading to lateral patellar subluxation and dislocation. The lateral portion of the upper tibial plateau presents with cupping and progressive depression of the lateral plateau, along with severe valgus angulation of the proximal tibia and fibula. A proximal medial tibial exostosis is seen in nearly all cases.
CONCLUSIONS: This is the largest group of Ellis-van Creveld syndrome patients identified in the literature. An understanding of the orthopaedic pathoanatomy of the knee deformity is critical to determining the appropriate surgical management. This paper characterises the orthopaedic manifestations of Ellis-van Creveld syndrome and especially identifies the pathoanatomy of the severe and progressive valgus knee deformity.
METHODS: Level II.
METHODS: Detailed interviews, physical examinations and/or radiographs were available on 71 cases of Ellis-van Creveld syndrome. Data were collected from physical examinations, radiographs, computed tomography (CT) reconstruction and magnetic resonance imaging (MRI) of the knee. Pathoanatomy of the knee was reinforced by the direct surgical observation of 25 limbs surgically managed during adolescence and puberty.
RESULTS: A number of interesting clinical and radiographic abnormalities were noted in the upper extremities and lower extremities, but by far the most significant orthopaedic finding was a severe and relentlessly progressive valgus deformity of the knee. Although many patients had difficulties making a \"fist\" with the hand, no patient reported any functional disability. The severe valgus deformity of the knee is the result of a combination of profound contractures of the iliotibial band, lateral quadriceps, lateral hamstrings and lateral collateral ligament, leading to lateral patellar subluxation and dislocation. The lateral portion of the upper tibial plateau presents with cupping and progressive depression of the lateral plateau, along with severe valgus angulation of the proximal tibia and fibula. A proximal medial tibial exostosis is seen in nearly all cases.
CONCLUSIONS: This is the largest group of Ellis-van Creveld syndrome patients identified in the literature. An understanding of the orthopaedic pathoanatomy of the knee deformity is critical to determining the appropriate surgical management. This paper characterises the orthopaedic manifestations of Ellis-van Creveld syndrome and especially identifies the pathoanatomy of the severe and progressive valgus knee deformity.
METHODS: Level II.
摘要：
背景：Ellis-vanCreveld是一种以常染色体隐性性状传播的矮化综合征。这种情况的持续特征包括肢端微峰侏儒症，外胚层发育不良涉及指甲，牙齿和牙龈,手后轴多指畸形和先天性心脏病。先天性心脏病影响所有患者的50-60％，近50％的患者在18个月大时死于心肺并发症。这项研究旨在根据作者的独特机会来采访和检查文献中迄今为止最大的一组患者，以描述Ellis-vanCreveld的骨科表现。
方法：详细访谈，对71例Ellis-vanCreveld综合征患者进行了体格检查和/或X光检查。数据来自体检，射线照片,膝关节的计算机断层扫描（CT）重建和磁共振成像（MRI）。通过对青春期和青春期手术管理的25条肢体的直接手术观察，加强了膝盖的病理解剖学。
结果：在上肢和下肢发现了一些有趣的临床和影像学异常，但到目前为止，最重要的矫形发现是膝关节严重而无情的进行性外翻畸形。尽管许多患者难以用手“握拳”，无患者报告任何功能性残疾.膝关节严重的外翻畸形是髂胫带深度挛缩的结果，股四头肌外侧,外侧腿筋和外侧副韧带，导致髌骨外侧脱位和脱位。胫骨上平台的外侧部分呈现拔罐和外侧平台的进行性凹陷。伴随着胫骨和腓骨近端的严重外翻。在几乎所有病例中都可见胫骨内侧外生症。
结论：这是文献中确定的最大的Ellis-vanCreveld综合征患者组。了解膝关节畸形的骨科病理解剖对于确定适当的手术治疗至关重要。本文描述了Ellis-vanCreveld综合征的骨科表现，特别是确定了严重和进行性外翻膝关节畸形的病理解剖学。
方法：二级。
方法：详细访谈，对71例Ellis-vanCreveld综合征患者进行了体格检查和/或X光检查。数据来自体检，射线照片,膝关节的计算机断层扫描（CT）重建和磁共振成像（MRI）。通过对青春期和青春期手术管理的25条肢体的直接手术观察，加强了膝盖的病理解剖学。
结果：在上肢和下肢发现了一些有趣的临床和影像学异常，但到目前为止，最重要的矫形发现是膝关节严重而无情的进行性外翻畸形。尽管许多患者难以用手“握拳”，无患者报告任何功能性残疾.膝关节严重的外翻畸形是髂胫带深度挛缩的结果，股四头肌外侧,外侧腿筋和外侧副韧带，导致髌骨外侧脱位和脱位。胫骨上平台的外侧部分呈现拔罐和外侧平台的进行性凹陷。伴随着胫骨和腓骨近端的严重外翻。在几乎所有病例中都可见胫骨内侧外生症。
结论：这是文献中确定的最大的Ellis-vanCreveld综合征患者组。了解膝关节畸形的骨科病理解剖对于确定适当的手术治疗至关重要。本文描述了Ellis-vanCreveld综合征的骨科表现，特别是确定了严重和进行性外翻膝关节畸形的病理解剖学。
方法：二级。
