BACKGROUND: This study evaluates anthropometric and pubertal development parameters in children and adolescents with sporadic and familial occurrence of neurofibromatosis type 1 (NF-1). METHODS: The study involved 23 patients (15 boys, 8 girls) with sporadic (n=12) and familial NF-1(7 affected mothers and 4 fathers), with average age of 12 years (range 5-20 years). All patients answered to a standard questionnaire including family and personal data and, following, they underwent systematized physical examination, with special attention to anthropometric data, dermatologic and pubertal stage according to Tanner's criteria evaluation. RESULTS: Short stature was detected in a 17 year-old patient, 148.5cm height, with score Z of -4.16 and being the even outside of the family conduit. Three male patients had head circumference above of + 2DP from on average for the age. It was not found no case of precocious or delayed puberty . CONCLUSIONS: In our study, do not we find significant alterations regarding the stature and pubertal development.
Neurofibromatosis type 1; Short stature; Puberty; Growth
