Clinical report: a case of Williams Syndrome and Klinefelter Syndrome.
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.
Lee
Le Ye
le Y
The Children's Medical Institute, National University Hospital, Singapore.
Quek
Swee Chye
SC
Chong
Samuel S
SS
Tan
Arnold S C
AS
Lum
Josephine M S
JM
Goh
Denise Li-Meng
DL
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*