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Case ReportOpen Access
Williams Syndrome and the Elastin Gene in Thai Patients
Ruangdaraganon N 
,
Tocharoentanaphol C ,
Kotchabhakdi N ,
Khowsathit P
,
Tocharoentanaphol C ,
Kotchabhakdi N ,
Khowsathit P Williams syndrome (WS) has long been known as a complex disorder of dysmorphic
facial features, described as elfin face, mental retardation or learning disability, loquacious personality,
and supravalvular aortic stenosis. The etiology is now known to be due to deletion of
the elastin gene (ELN) on long arm of chromosome 7. Thai patients were previously reported
by clinical diagnosis. This study reports the first two cases of WS with ELN deletion diagnosed
by fluorescent in situ hybridization (FISH) technique. Clinically, hyperacusis is a common finding
in WS associated with otitis media. Neither of the patients had hyperacusis, but one of them had
bilateral sensorineural hearing loss, which to our knowledge, has never been reported.
Key word : Williams Syndrome, Elastin Gene, Hearing Loss
facial features, described as elfin face, mental retardation or learning disability, loquacious personality,
and supravalvular aortic stenosis. The etiology is now known to be due to deletion of
the elastin gene (ELN) on long arm of chromosome 7. Thai patients were previously reported
by clinical diagnosis. This study reports the first two cases of WS with ELN deletion diagnosed
by fluorescent in situ hybridization (FISH) technique. Clinically, hyperacusis is a common finding
in WS associated with otitis media. Neither of the patients had hyperacusis, but one of them had
bilateral sensorineural hearing loss, which to our knowledge, has never been reported.
Key word : Williams Syndrome, Elastin Gene, Hearing Loss
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