title: Proteus syndrome: Clinical diagnosis of a series of cases.
abstract: OBJECTIVE
  This paper describes the clinical diagnosis of Proteus syndrome (PS) in children referred for evaluation of asymmetric disproportionate overgrowth.
  
  
  METHODS
  Retrospective, descriptive, cross-sectional study conducted from January 1998 to December 2010.
  
  
  RESULTS
  During the study period, 2011 new patients were evaluated. Thirteen (0.65%) patients presented features suggestive of PS. These patients were formally evaluated based on the revised diagnostic criteria proposed by Biesecker. The mean age was 6.92 ± 5.1 years. Ten patients (76.9%) were females. All subjects had asymmetric disproportionate overgrowth. Other dysmorphic features were as follows: macrodactily (84.6%); linear epidermal nevus (41.6%); hemangioma (30.7%); and lipoma (23%). Six patients fulfilled the diagnostic criteria for PS.
  
  
  CONCLUSIONS
  The diagnostic rate of only 46.1% of patients with PS confirms the diagnostic difficulties and the need for continuous monitoring and periodic review of these patients since the clinical manifestations of this syndrome become more evident with aging. Molecular tests may help the differential diagnosis of Proteus syndrome when they became commercially available.
authors.affiliation: Pediatric Endocrinology Unit, Hospital Universitario Prof. Edgard Santos, Faculty of Medicine, Federal University of Bahia, Salvador, Bahia, Brazil.
authors.forename: Cresio
authors.initials: C
authors.lastname: Alves
authors.affiliation: Genetic Service, Hospital Universitario Prof. Edgard Santos, Faculty of Medicine, Federal University of Bahia, Salvador, Bahia, Brazil.
authors.forename: Angelina X
authors.initials: AX
authors.lastname: Acosta
authors.affiliation: Genetic Service, Hospital Universitario Prof. Edgard Santos, Faculty of Medicine, Federal University of Bahia, Salvador, Bahia, Brazil.
authors.forename: Maria Betânia P
authors.initials: MB
authors.lastname: Toralles
keywords: Asymmetric overgrowth; diagnostic criteria; proteus syndrome