Some epidemiological characteristics of Down syndrome in the region of western Herzegovina

During a ten-year period (1994-2004), in the Neonatology department of the Clinical Hospital of Mostar, there were 37 children registered with Down syndrome (26 boys and 11 girls). The average prevalence of this syndrome for the region is 1.8/1000 newborns in the period mentioned. This phenotypically easily-recognized syndrome has been proved through cytogenetic analyses in 29 children (78.4%). In 27 children the regular type of trysomy 21 (93.1%) was discovered and in two cases the translocation type of Down syndrome was found. Twenty-three couples of parents (62%) were over 35 years old. Only in one case was early amniocentesis performed with a positive diagnosis. All children with Down syndrome had five or more easily recognized minor anomalies present in variable combinations: upward slanted (mongoloid) eyes in 31 children (83.8%); hypertelorism in 12 (33.4%), nine (24.3%) epicanthus, 12 (32.4%) prominent tongue, nine (24.3%) depressed nose bridge, 18 (48.6%) malformed ears, 17(45.9%) had a simian crease across the palm, nine (24.3%) a wide distance between the 1st and 2nd toes. There were some other minor anomalies too, but fewer in number and appearing in various combinations. All children had hypotonia of varying degre. 21 children (56.8%) had major malformations and three children had milder form of conatal hypotireosis. Six children (16.2%) died in the neonatal and early infant period due to sepsis and complex cardiovascular anomalies. Considering the major malformations and the accompanying complications, Down syndrome remains an important part of everyday paediatric clinical practice.