Journal of medical genetics · 2000
Growth in North American white children with neurofibromatosis 1 (NF1).
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Szudek J, Birch P, Friedman J M
Аннотация
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.
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.