An analysis of multiple congenital anomaly syndromes in a Chinese population

During an eight-year period, 4,890 index patients and their families were referred to the Clinical Genetic Service. Of the probands, 2,096 were diagnosed as suffering from multiple congenital anomaly syndromes. These represented 42.9% of the total. Ten commonest conditions accounted for 50% of patients suffering from this category of genetic diseases. A multidisciplinary approach was emphasized in the diagnosis and management.