Clinical report: a case of Williams Syndrome and Klinefelter Syndrome
Annals of the Academy of Medicine, Singapore
;
: 901-904, 2006.
Artigo
em Inglês
| 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>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Estatura
/
Peso Corporal
/
Comorbidade
/
Epidemiologia
/
Hibridização in Situ Fluorescente
/
Síndrome de Williams
/
Diagnóstico
/
Síndrome de Klinefelter
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Criança, pré-escolar
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Annals of the Academy of Medicine, Singapore
Ano de publicação:
2006
Tipo de documento:
Artigo
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