Clinical report: a case of Williams Syndrome and Klinefelter Syndrome
Lee, L.Ye.; Quek, S.Chye.; Chong, S.S.; Tan, A.S.C.; Lum, J.M.S.; Goh, D.Li-Meng.
Annals of the Academy of Medicine Singapore 35(12): 901-904
2006
ISSN/ISBN: 0304-4602 PMID: 17219004 Document Number: 604924
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. We report a child with these genetic aberrations, highlighting the clinical characteristics of such an individual. The manifestations and interactions of both conditions are also discussed.