Brazilian growth charts for 22q11.2 deletion syndrome from birth to 17 years

To develop Brazilian growth charts for weight, height, body mass index (BMI), and head circumference (HC), stratified by sex, for patients with 22q11.2 deletion syndrome (22q11.2DS) from birth to 17 years.

This multicenter, retrospective, longitudinal study included 1826 anthropometric data collected through medical record review of 113 patients with a laboratory-confirmed diagnosis of 22q11.2DS who were followed at 11 centers participating in the Craniofacial Brazil Project. The 3rd, 10th, 25th, 50th, 75th, 90th, and 97th percentiles for anthropometric parameters were developed for males and females from birth to 17 years old using the Lambda-Mu-Sigma (LMS) method and graphically compared with reference percentiles from the Centers for Disease Control and Prevention using the Tidyverse package in R software.

A growth pattern distinct from that of the reference population was observed, with more pronounced deficits in height and weight during the first two years of life in both sexes. After this period, partial recovery in height was observed, more evident in females, whereas the deficit remained more pronounced in males. Differences in BMI and HC were less marked.

The Brazilian growth charts for 22q11.2DS provide more appropriate parameters for clinical monitoring and individualized care of this population.