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PMID: 11106357 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.

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

Journal of medical genetics ·Vol. 37 ·No. 12 ·2000-12-00 ·页码 933-8

Szudek J, Birch P, Friedman JM

Abstract

To analyse the distributions of and generate growth charts for stature and occipitofrontal circumference (OFC) in neurofibromatosis 1 (NF1) patients. Cross sectional database survey. The National Neurofibromatosis Foundation International Database (NFDB) includes clinical information on NF1 patients from 14 participating centres in North America. A total of 569 white, North American, NF1 patients, 55% female and 45% male. Stature and OFC measurements of NF1 patients were compared to age and sex matched population norms using z score standardisation and centile curves. 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). Alterations of stature and OFC are not limited to NF1 patients with frank short stature or macrocephaly.

MeSH 主题词
Adolescent Body Height Child Child, Preschool Cross-Sectional Studies Female Growth/physiology Growth Disorders/epidemiology,physiopathology Head/growth & development Humans Male Neurofibromatosis 1/epidemiology,physiopathology North America/epidemiology Reference Values Whites
作者与单位
共 3 位作者,点击展开单位 / ORCID
Szudek J
Department of Medical Genetics, The University of British Columbia, 222-6174 University Boulevard, Vancouver, BC V6T 1Z3, Canada. szudek@unixg.ubc.ca
Birch P
Friedman J M
Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
1468-6244
Corresponding email
Published
2000-12-00
页码
933-8
Language
English
Country/Region
England
NLM ID
2985087R
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