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Williams-Beuren syndrome in the Hong Kong Chinese
population: retrospective study
EKC Yau, IFM Lo, STS Lam
Department of Paediatrics and Adolescent Medicine, Princess Margaret
Hospital, 2-10 Princess Margaret Hospital Road, Laichikok, Hong
Kong
OBJECTIVE. To estimate the incidence and document
the clinical characteristics of Williams-Beuren syndrome in the
Hong Kong Chinese population.
DESIGN. Cytogenetic analysis and retrospective study.
SETTING. Clinical Genetic Service, Department of
Health, Hong Kong.
PATIENTS. Forty-one Chinese patients with Williams-Beuren
syndrome.
MAIN OUTCOME MEASURES. From 1 January 1995 to 30
June 2002, fluorescence in situ hybridisation was used to confirm
diagnoses in 41 cases of Williams-Beuren syndrome by detecting chromosome
7q microdeletion. Case records were reviewed, the incidence of the
condition in the local population was estimated, and the main clinical
characteristics were determined.
RESULTS. The minimal incidence of Williams-Beuren
syndrome in this locality was estimated to be approximately 1 per
23 500 live births. Common dysmorphic facial features included periorbital
fullness (83%), full lips (80%), a long philtrum (51%), a flat nasal
bridge (41%), and abnormal teeth (37%). No patients had a stellate
iris. The majority (82%) had at least one documented cardiac anomaly;
among these patients, peripheral pulmonary stenosis was diagnosed
in 61% and supravalvular aortic stenosis in 45%. Nearly all (93%)
of the study group exhibited developmental delay.
CONCLUSION. As in the West, patients with Williams-Beuren
syndrome in the Hong Kong Chinese population display craniofacial
dysmorphism, cardiovascular anomalies, and mental deficiency. Supravalvular
aortic stenosis—the cardiac defect most commonly associated
with Williams-Beuren syndrome in western countries—is less
common than peripheral pulmonary stenosis in this region.Studies
involving periodic cardiovascular evaluation are needed to confirm
if this difference is significant.
Hong Kong Med J 2004;10:22-7
Key words: Abnormalities, multiple; Genetic disease,
inborn; Williams syndrome
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