ABSTRACT
Objective. To study the clinical spectrum of Filipino patients with Williams Syndrome and to confirm the gene deletion by FISH analysis. Methods. From June 2005 to September 2008, patients who were seen at the Genetics clinic of the UP-PGH and who met the clinical criteria for Williams Syndrome were analyzed for the 7q11.23 deletion through karyotyping and FISH studies. A detailed history and a thorough dysmorphologic examination were performed. Relevant investigations included two-dimensional echocardiography, renal ultrasonography, ophthalmologic examination, developmental assessment and serum calcium determination. Result. Eight patients were included in the study. The mean age at first diagnosis was 8.5 years. All cases were sporadic. The chromosomal analysis was normal for all patients and in the FISH analysis, a 7q11.23 deletion was detected in 100% of cases. Distinctive facial features, cardiac abnormalities and developmental delay were present in all patients. The typical behavior of overfriendliness was observed in the majority of cases. Hypercalcemia was documented in only one case and no renal anomalies were detected. Conclusion. The craniofacial features were similar among patients but there is a broad spectrum of severity of clinical features in cardiovascular abnormalities, personality, behavior traits and mental capacity.
Subject(s)
Cytogenetics , Genetics , Williams Syndrome , Nervous System Diseases , Neurologic Manifestations , Neurobehavioral Manifestations , Intellectual Disability , Gene Deletion , In Situ Hybridization, Fluorescence , Aortic Stenosis, Supravalvular , Diagnosis , Diagnostic Techniques and Procedures , Clinical Laboratory Techniques , Cytological Techniques , Histocytological Preparation Techniques , Staining and Labeling , In Situ HybridizationABSTRACT
Congenital anomalies have been in the top ten causes of infant mortality in the Philippines for the past 50 years. Since there is no synthetic surveillance for the congenital anomalies in our country, there are no specific programs directed toward better understanding of this group of patients. The birth defects surveillance project was convinced in 008 to develop a system of reporting of newborns with birth defects at the hospital and community setting. The lead agencies for this project are the University of the Philippines Manila-National Institutes of Health and the department of Health (DOH). This paper describes the establishment of the Philippine Birth Defects Surveillance.