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

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. (J Med Genet 2000;37:933-938)

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model

“…An OMIM search for syndromes with 'macrocephaly' within the clinical synopsis reveals 103 syndromes for which clinical testing is available or a diagnosis could be made based on clinical and laboratory assessment. Head circumference has been systematically assessed in patients with Fragile X, 16 Nevoid Basal Cell Carcinoma (NBCCS), 17 Neurofibromatosis 1, 18 and Sotos 19,20 syndromes. In Fragile X syndrome, OFC for most patients falls into the normal range, with the 5th, 50th, and 95th centiles for the patient population being consistently just slightly above the respective normal centiles.…”

Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options

“…Individuals with NF1 tend to be shorter than expected for their families [Szudek et al, 2000;Virdis et al, 2003], with 20-30% of adults with NF1 estimated to have a height below the 3rd centile. Growth velocity in these individuals is typically normal or near normal before puberty, then declines.…”

“…Head circumference in patients with NF1 tends to be large, and macrocephaly (head circumference >2 SD above the mean) occurs in about one-fourth of patients [Szudek et al, 2000]. However, much of this is thought to be due to enlargement of the brain [Greenwood et al, 2005].…”

Body composition in adults with neurofibromatosis type 1

“…However, NF1 can also exhibit multisystemic involvement including musculoskeletal, cardiovascular, endocrine, ophthalmic, central and peripheral neural system, learning deficits and speech disorders. [3][4][5] Recently, the first study of nutrient intake in NF1 patients was published, 6 and, although the clinical manifestations of NF1 are well established, data on body composition are scarce 4,[7][8][9][10] and not well known. Low weight, short stature, and reduced body mass index (BMI) were found previously in NF1 patients and can be used as nutritional status indicators.…”

“…However, these characteristics had different prevalence rates in the small number of studies available. 4,[7][8][9][10] Most of these studies were conducted in children only, or included children and adults in the same sample.…”