CRANIO-FACIAL DYSMORPHISM AND DEVELOPMENTAL DELAY IN ROMANIAN CHILDREN WITH TRISOMY 21

Trisomy 21 is the most frequent autosomal chromosomopathy. The clinical picture includes dysmorphism, developmental delay and malformative syndrome. At present time, in Romania, the cytogenetic diagnosis is delayed. The aim of this study was to evaluate the dysmorphism in correlation with the cytogenetic findings and to asses the developmental delay. We conducted an observational study that included 136 patients with trisomy 21 recruited from the Department of Medical Genetics, Emergency Children’s Hospital, Cluj-Napoca and the Department of Pediatrics, “Grigore Alexandrescu” Emergency Children’s Hospital, Bucharest. The patients were evaluated recording the clinical characteristics, the somatic and intellectual development. In 91.2% of the cases the diagnosis of regular trisomy 21 was established. The cariogram was performed late, at a mean age of 1 year 6 months. 61% of patients were boys; the mean age was 3 years 6 months. All patients displayed dysmorphic features. The most frequent clinical findings were: upslanting palpebral fissures (94.19%), hypothelorism (80.1%) and low set/small/malformated ears (79.4%). No significant differences regarding the dysmorphic features were found between regular and mosaic trisomy 21. In infants, the weight gain was delayed. In children ≥ 1 year the delay was predominantly in height gain and 37.3% were overweight. The mean IQ was 45. A significant number of Romanian patients with Down phenotype do not benefit from an early genetic diagnosis. Our study summarized the elements of the cranio-facial dysmorphism, somatic and intellectual development of children with trisomy 21. The somatic developmental delay varied with age. The intellectual delay was recorded for all patients. No significant differences were found in relation to the cytogenetic diagnosis.