Márcia Gonçalves Ribeiro and Marcelo P Coutinho
Objective: The main purpose of this study was to carry out a clinical evaluation about anthropometric measurements (weight, length and head circumference) of a group of Brazilian Neurofibromatosis type 1 (NF1) children and adolescent individuals. Patients and Methods: This was an observational and cross-sectional study. The patient sample included 146 children and adolescents of both sexes; aged zero to 19 years and each individual was measured just once. The dispersion of the anthropometric measurements was evaluated and their position in relation to the percentiles of standard WHO growth charts were used as a reference in pediatric practice. Results: Short stature was present in 17.1% of the subjects; the higher frequency was observed in males aged 5-19 years (20.4%). The heritability of NF1 in patients with short stature was not statistically significant (p value >0.05) when we compared the individuals that presented short stature or not and positive or negative familial history of NF1 using a 2×2 Table (χ2 analysis). In males, the percentage of low birth weight was 5.5% while in females it was 1.4%. The percentage of underweight individuals was 3.7%. Macrocephaly was observed in 25.0% of boys and girls aged 0-5 years. Conclusions: In a group of Brazilian NF1 patients, we found cases of short stature even in the first five years of life. Weight below percentile 50 was predominant in girls aged 0-5 years (72.2%) and head circumference above percentile 50 with macrocephaly was also present. Birth’s mean weight and length below average apparently are not general characteristics of NF1 individuals from Brazil.
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