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Growth in North American white children with neurofibromatosis 1 (NF1)


OBJECTIVE To analyse the distributions of and generate growth charts for stature and occipitofrontal circumference (OFC) in neurofibromatosis 1 (NF1) patients.

DESIGN Cross sectional database survey.

SETTING The National Neurofibromatosis Foundation International Database (NFDB) includes clinical information on NF1 patients from 14 participating centres in North America.

SUBJECTS A total of 569 white, North American, NF1 patients, 55% female and 45% male.

MAIN OUTCOME MEASURES Stature and OFC measurements of NF1 patients were compared to age and sex matched population norms using z score standardisation and centile curves.

RESULTS The distributions of stature and OFC are shifted and unimodal among NF1 patients; 13% of patients have short stature (⩾2 standard deviations below the population mean) and 24% have macrocephaly (OFC ⩾2 standard deviations above the population mean).

CONCLUSIONS Alterations of stature and OFC are not limited to NF1 patients with frank short stature or macrocephaly.

  • neurofibromatosis 1
  • stature
  • occipitofrontal circumference
  • macrocephaly

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