1. Growth in North American white children with neurofibromatosis 1 (NF1)
- Author
-
Kathryn North, Jan Friedman, Minna Pöyhönen, Markus Schuelke, and Patricia Birch
- Subjects
Male ,medicine.medical_specialty ,Pediatrics ,congenital, hereditary, and neonatal diseases and abnormalities ,Neurofibromatosis 1 ,Adolescent ,Cross-sectional study ,Population ,Growth ,Standard score ,Short stature ,White People ,Perimeter ,Reference Values ,Internal medicine ,Genetics ,medicine ,Humans ,Neurofibromatosis ,education ,Child ,Genetics (clinical) ,Growth Disorders ,education.field_of_study ,business.industry ,Macrocephaly ,Original Articles ,medicine.disease ,Body Height ,Endocrinology ,Cross-Sectional Studies ,El Niño ,Child, Preschool ,North America ,Female ,medicine.symptom ,business ,Head - 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. Keywords: neurofibromatosis 1; stature; occipitofrontal circumference; macrocephaly
- Published
- 2000