J Szudek1, P Birch, J M Friedman. 1. Department of Medical Genetics, The University of British Columbia, 222-6174 University Boulevard, Vancouver, BC V6T 1Z3, Canada. szudek@unixg.ubc.ca
Abstract
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.
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 NF1patients from 14 participating centres in North America. SUBJECTS: A total of 569 white, North American, NF1patients, 55% female and 45% male. MAIN OUTCOME MEASURES: Stature and OFC measurements of NF1patients 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 NF1patients; 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 NF1patients with frank short stature or macrocephaly.
Authors: M Lammert; J M Friedman; H J Roth; R E Friedrich; L Kluwe; D Atkins; T Schooler; V-F Mautner Journal: J Med Genet Date: 2006-03-29 Impact factor: 6.318
Authors: Christina Schindera; Kevin Wingeier; Barbara Goeggel Simonetti; Miriam Diepold; Claude B Nauer; Johannes Fleischhauer; Maja Steinlin Journal: Childs Nerv Syst Date: 2011-08-07 Impact factor: 1.475