Aims Trisomy 21 is the most frequent autosomal chromosomopathy. The developmental delay is a constant finding. This study aimed to evaluate the auxological parameters of Romanian trisomy 21 patients and to correlate them with the cytogenetic findings.
Material and method We conducted an observational study on 136 patients with cytogenetically confirmed trisomy 21 that were evaluated recording their auxological parameters. The nutritional status of the patients was evaluated using growth charts from WHO until 5 years and from CDC over 5 years. For infants, the ponderal index was used. For patients ≥1 year, we used growth charts for weight and BMI and standard deviation score for height. The growth parameters were statistically evaluated considering three age groups (newborn, infant, child ≥1 year) and the cytogenetic anomalies.
Results 91.2% of patients had regular trisomy 21. The mean birth weight was 2904grams and the mean birth length 49,6cm. 80% of the infants associated protein-caloric malnutrition; the length was affected in 54.9% of 1 month - 1 year patients. 49.4% of patients ≥1 year were underweight, 37.03% were overweight and 75.3% associated short-stature. Only 14.5% of patients <1 year and 8.6% of patients ≥1 year had a normal nutritional status. No significant differences were found in relation to the cytogenetic diagnosis.
Conclusions The somatic delay varied in relation to age. In infants underweight dominated. In children ≥1 year short-stature was the main finding and one third of patients were overweight. Only a reduced number of trisomy 21 children had normal auxological parameters.