Journal
JOURNAL OF MEDICAL GENETICS
Volume 37, Issue 12, Pages 933-938Publisher
BMJ PUBLISHING GROUP
DOI: 10.1136/jmg.37.12.933
Keywords
neurofibromatosis 1; stature; occipitofrontal circumference; macrocephaly
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Objective-To analyse the distributions of and generate growth charts for stature and occipitofrontal circumference (OFC) in neurofibromatosis I (NF1) patients. Design-Cross sectional database survey. Setting-The National Neurofibromatosis Foundation International Database (NFDE) includes clinical information on NF1 patients fi om 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 (greater than or equal to2 standard deviations below the population mean) and 24% have macrocephaly (OFC greater than or equal to2 standard deviations above the population mean). Conclusions-Alterations of stature and OFC are not limited to NF1 patients with frank short stature or macrocephaly.
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