Neurofibromatosis type 1 growth charts

Citation
M. Clementi et al., Neurofibromatosis type 1 growth charts, AM J MED G, 87(4), 1999, pp. 317-323
Citations number
29
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
87
Issue
4
Year of publication
1999
Pages
317 - 323
Database
ISI
SICI code
0148-7299(199912)87:4<317:NT1GC>2.0.ZU;2-9
Abstract
Growth abnormalities such as macrocephaly and short stature have been descr ibed and are considered a consistent finding in neurofibromatosis type 1 (N F1), one of the most common autosomal dominant disorders in man. We present here a clinical study on the growth profile of a sample of NF1 patients co llected through a population-based registry that covers three contiguous re gions of North-East Italy (NEI-NF Registry), Auxometric traits of 528 NF1 p atients have been measured with the aim of drawing growth charts for height , weight, and head circumference (OFC), Height velocity charts were based o n a subset of 143 children who underwent multiple measurements. No differen ces in height were apparent between NF1 and normal subjects up to age 7 (gi rls) and 12 (boys) years; subsequently, the 50th centile of NF1 subjects te nds to overlap with the 25th centile of normal subjects, and the 3rd centil e is much lower in NF1 subjects than in normal subjects, mainly during adol escence, The negatively skewed distribution of height seems to indicate tha t height growth impairment affects only a proportion of NF1 subjects; heigh t growth impairment does not seem related to disease severity. As for weigh t, our data suggest that slight overweight is a characteristic of adult NF1 subjects (mainly among males), independent of disease severity. Height gro wth velocity is normal during childhood for both sexes, whereas the puberta l spurt is slightly anticipated and reduced in NF1 boys but not in girls. O ur data confirm previous observations that macrocrania affects most NF1 sub jects; the shape of the head growth curve is similar in NF1 and normal girl s, whereas NF1 boys present an OFC pubertal growth spurt much more pronounc ed and delayed than normal boys. The disproportion between OFC and height s eems to be related to disease severity in boys but not in girls. Growth cha rts presented here can be useful in neurofibromatosis clinics for the ident ification of the effects of secondary growth disorders, for growth prognosi s, and for the evaluation of the effects of a therapy such as GH therapy af ter radiotherapy for optic glioma.