Publication: Williams syndrome and the Elastin gene in Thai patients
Issued Date
1999-01-01
Resource Type
ISSN
01252208
Other identifier(s)
2-s2.0-28144462446
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Mahidol University
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SCOPUS
Bibliographic Citation
Journal of the Medical Association of Thailand. Vol.82, No.SUPPL. (1999)
Suggested Citation
Nichara Ruangdaraganon, Chintana Tocharoentanaphol, Nittaya Kotchabhakdi, Pongsak Khowsathit Williams syndrome and the Elastin gene in Thai patients. Journal of the Medical Association of Thailand. Vol.82, No.SUPPL. (1999). Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/25745
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Title
Williams syndrome and the Elastin gene in Thai patients
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Abstract
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.