title: Orthopaedic manifestations of Proteus syndrome in a child with literature update.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Paediatric Orthopaedics, Department of Orthopaedic Surgery, Faculty of Medicine, Ain-Shams University, 38 Abbasia, Cairo, Egypt.
authors.forename: Tamer Ahmed
authors.initials: TA
authors.lastname: El-Sobky
authors.affiliation: Division of Medical Genetics, Department of Paediatrics, Faculty of Medicine, Ain-Shams University, 38 Abbasia, Cairo, Egypt.
authors.forename: Solaf M
authors.initials: SM
authors.lastname: Elsayed
authors.affiliation: Division of Paediatric Rehabilitation, Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Ain-Shams University, 38 Abbasia Cairo, Egypt.
authors.forename: Dalia M E
authors.initials: DM
authors.lastname: El Mikkawy
keywords: Musculoskeletal; Overgrowth syndromes; Rare bone disease