title: Clinical report: a case of Williams Syndrome and Klinefelter Syndrome.
abstract: BACKGROUND
  Williams syndrome (WS) is a rare but well recognised neurodevelopmental disease affecting the connective tissue and the central nervous system. Many patients are identified through the presence of dysmorphic features and associated cardiac abnormalities. Klinefelter syndrome (KS) is associated with gynaecomastia, small testes, azoospermia and elevated gonadotropin levels. They are recognised in the second decade of life by their tall stature and delay in pubertal development. A combination of constitutive WS and KS has yet to be described.
  
  
  METHODS
  We report a child with these genetic aberrations, highlighting the clinical characteristics of such an individual.
  
  
  CONCLUSIONS
  The manifestations and interactions of both conditions are also discussed.
authors.affiliation: The Children's Medical Institute, National University Hospital, Singapore.
authors.forename: Le Ye
authors.initials: le Y
authors.lastname: Lee
authors.forename: Swee Chye
authors.initials: SC
authors.lastname: Quek
authors.forename: Samuel S
authors.initials: SS
authors.lastname: Chong
authors.forename: Arnold S C
authors.initials: AS
authors.lastname: Tan
authors.forename: Josephine M S
authors.initials: JM
authors.lastname: Lum
authors.forename: Denise Li-Meng
authors.initials: DL
authors.lastname: Goh
mesh_terms: D001827:Body Height; D001835:Body Weight; D002675:Child, Preschool; D015897:Comorbidity; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007713:Klinefelter Syndrome / Q000175:diagnosis / Q000453:epidemiology*; D008297:Male; D018980:Williams Syndrome / Q000175:diagnosis / Q000453:epidemiology*