El-Sobky Tamer Ahmed, Elsayed Solaf M, El Mikkawy Dalia M E
Division of Paediatric Orthopaedics, Department of Orthopaedic Surgery, Faculty of Medicine, Ain-Shams University, 38 Abbasia, Cairo, Egypt.
Division of Medical Genetics, Department of Paediatrics, Faculty of Medicine, Ain-Shams University, 38 Abbasia, Cairo, Egypt.
Bone Rep. 2015 Sep 26;3:104-108. doi: 10.1016/j.bonr.2015.09.004. eCollection 2015 Dec.
Proteus syndrome is a rare developmental disorder of unknown aetiology. It is a disorder characterized by postnatal overgrowth affecting multiple tissues. Proteus syndrome is most frequently manifested in skeletal changes. As manifestations of Proteus syndrome are highly variable, and many are found in other overgrowth syndromes, and due to inconsistent application of diagnostic criteria, the literature has more reports of patients misdiagnosed than correctly diagnosed. The purpose of this study is to report the clinical and radiographic patterns of affection of the musculoskeletal system in Proteus syndrome in the light of the proposed diagnostic criteria and cases reported in the literature.
The clinical and radiographic musculoskeletal characteristics of a child with Proteus syndrome are illustrated along with a literature update. The orthopaedic manifestations in our patient are correlated to cases and proposed diagnostic criteria reported in the literature.
The study of the presented case and review of available literature show that there tends to be a highly characteristic pattern of skeletal abnormalities in Proteus syndrome.
The rarity of Proteus syndrome and the variability of signs make the diagnosis challenging. Clinical and radiographic examinations are important contributors to the diagnosis. The clinical utility of the reported cases is significantly dependent on consistent application of diagnostic criteria that augment diagnostic accuracy. The present case reinforces the need for supplementary musculoskeletal imaging modalities to be implemented in the diagnosis of Proteus syndrome.
变形综合征是一种病因不明的罕见发育障碍。它是一种以出生后多个组织过度生长为特征的疾病。变形综合征最常表现为骨骼变化。由于变形综合征的表现高度可变，且许多表现也见于其他过度生长综合征，同时由于诊断标准应用不一致，文献中误诊患者的报道多于正确诊断的报道。本研究的目的是根据提议的诊断标准和文献报道的病例，报告变形综合征患者肌肉骨骼系统受累的临床和影像学表现。
结合文献更新，阐述一名变形综合征患儿的临床和影像学肌肉骨骼特征。将我们患者的骨科表现与文献报道的病例及提议的诊断标准进行关联。
对本病例的研究及对现有文献的回顾表明，变形综合征往往存在高度特征性的骨骼异常模式。
变形综合征的罕见性和体征的变异性使得诊断具有挑战性。临床和影像学检查是诊断的重要依据。所报道病例的临床实用性很大程度上取决于诊断标准的一致应用，这有助于提高诊断准确性。本病例强调了在变形综合征诊断中采用补充性肌肉骨骼成像模式的必要性。
