Clinical report: a case of Williams Syndrome and Klinefelter Syndrome
Annals of the Academy of Medicine, Singapore
;
: 901-904, 2006.
Article
in English
| WPRIM
| ID: wpr-275245
ABSTRACT
<p><b>INTRODUCTION</b>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.</p><p><b>CLINICAL PICTURE</b>We report a child with these genetic aberrations, highlighting the clinical characteristics of such an individual.</p><p><b>CONCLUSION</b>The manifestations and interactions of both conditions are also discussed.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Body Height
/
Body Weight
/
Comorbidity
/
Epidemiology
/
In Situ Hybridization, Fluorescence
/
Williams Syndrome
/
Diagnosis
/
Klinefelter Syndrome
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Child, preschool
/
Humans
/
Male
Language:
English
Journal:
Annals of the Academy of Medicine, Singapore
Year:
2006
Type:
Article
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