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Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study
E K C Yau1, I F M Lo, S T S Lam
1Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, 2-10 Princess Margaret Hospital Road, Laichikok, Hong Kong. yaukce@hotmail.com
Insights
Williams-Beuren syndrome occurs in Hong Kong Chinese at an estimated incidence of 1 in 23,500 live births, presenting with typical craniofacial, cardiovascular, and developmental features. Peripheral pulmonary stenosis is more common than supravalvular aortic stenosis in this population.
Area of Science:
- Genetics
- Pediatrics
- Clinical Medicine
Background:
- Williams-Beuren syndrome (WBS) is a rare genetic disorder.
- Previous studies on WBS characteristics have primarily focused on Western populations.
Purpose of the Study:
- To determine the incidence of Williams-Beuren syndrome in the Hong Kong Chinese population.
- To document the clinical and genetic characteristics of WBS in this specific ethnic group.
Main Methods:
- A retrospective study was conducted using data from the Clinical Genetic Service in Hong Kong.
- Fluorescence in situ hybridisation (FISH) was employed to confirm the 7q microdeletion in 41 diagnosed patients.
- Case records were reviewed to ascertain clinical features and estimate incidence.
Main Results:
- The minimal incidence of WBS in Hong Kong was estimated at approximately 1 per 23,500 live births.
- Common dysmorphic features included periorbital fullness, full lips, long philtrum, flat nasal bridge, and abnormal teeth.
- The majority of patients (82%) had cardiac anomalies, with peripheral pulmonary stenosis (61%) being more prevalent than supravalvular aortic stenosis (45%). Developmental delay was observed in 93% of cases.
Conclusions:
- Williams-Beuren syndrome in Hong Kong Chinese patients shares similarities with Western cohorts, including craniofacial dysmorphism, cardiovascular anomalies, and mental deficiency.
- A notable difference observed is the higher prevalence of peripheral pulmonary stenosis compared to supravalvular aortic stenosis in this population.
- Further research is recommended to investigate the significance of this cardiovascular anomaly distribution.
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 23500 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.
