RT Journal Article
SR Electronic
T1 Growth in North American white children with neurofibromatosis 1 (NF1)
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 933
OP 938
DO 10.1136/jmg.37.12.933
VO 37
IS 12
A1 J Szudek
A1 P Birch
A1 J M Friedman
A1 the National Neurofibromatosis Foundation International Database Participants
YR 2000
UL http://jmg.bmj.com/content/37/12/933.abstract
AB 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.