title: Prader-Willi syndrome: a case report with atypical developmental features.
abstract: OBJECTIVE
  To describe the case of a male Prader-Willi syndrome (PWS) patient with atypical development features.
  
  
  METHODS
  We report the case of a male adolescent with confirmed diagnosis of PWS which presents atypical phenotype. The patient progressed with spontaneous and complete pubertal development, stature in the normal range, and weight control without any pharmacological treatment, except metformin.
  
  
  CONCLUSIONS
  PWS is an imprinting paternally inherited disorder of 15q11-13 characterized by hypotonia in infant age, hyperphagia, varied degrees of mental retardation, behavior problems, hypogonadism, short stature, and other less common findings.
authors.forename: Letícia E
authors.initials: LE
authors.lastname: Sewaybricker
authors.forename: Guilherme
authors.initials: G
authors.lastname: Guaragna-Filho
authors.forename: Georgette B
authors.initials: GB
authors.lastname: Paula
authors.forename: Juliana G R
authors.initials: JG
authors.lastname: Andrade
authors.forename: Bruna J
authors.initials: BJ
authors.lastname: Tincani
authors.forename: Lília
authors.initials: L
authors.lastname: D'Souza-Li
authors.forename: Sofia H V
authors.initials: SH
authors.lastname: Lemos-Marini
authors.forename: Andréa T
authors.initials: AT
authors.lastname: Maciel-Guerra
authors.forename: Gil
authors.initials: G
authors.lastname: Guerra-Júnior
mesh_terms: D000293:Adolescent; D002648:Child; D006801:Humans; D006963:Hyperphagia / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics; D011627:Puberty / Q000235:genetics; D015431:Weight Loss / Q000235:genetics*