J Med Genet

HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER


[Advanced]
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this link to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Add article to my folders
Right arrow Download to citation manager
Right arrowRequest Permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Szudek, J
Right arrow Articles by Participants, t. N. N. F. I. D.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Szudek, J
Right arrow Articles by Participants, t. N. N. F. I. D.
J Med Genet 2000;37:933-938 ( December )

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

J Szudek, P Birch, J M Friedman, the National Neurofibromatosis Foundation International Database Participants*

Department of Medical Genetics, The University of British Columbia, 222-6174 University Boulevard, Vancouver, BC V6T 1Z3, Canada

Correspondence to: J Szudek, szudek{at}unixg.ubc.ca

Revised version received 8 June 2000; Accepted for publication 21 July 2000

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

* Wylie Burke, Robin Bennett (University of Washington, Seattle), J M de Campos (Fundacion Jimenez Diaz, Madrid), J M Friedman, Patricia Birch (University of British Columbia), Bruce Korf (Boston Children's Hospital), Wilma Krause, Kim Uhas (Scottish Rite Children's Medical Center, Atlanta), Michihito Niimura, Yoshikata Inaba (Jikei University, Tokyo), Kathryn North (Children's Hospital, Sydney, Australia), June Ortenberg, Vazken Der Kaloustian (Montreal Children's Hospital), Minna Poyhonen (Oulu University Hospital, Finland), Allan Rubenstein (Mount Sinai Medical Center, New York), Priscilla Short, Kathleen Bové (Massachusetts General Hospital), Susan Stine, Linda Nicholson (Dupont Institute, Wilmington), Romano Tenconi (University of Padova, Italy), Elaine Zackai (Children's Hospital of Philadelphia), John Carey, David Viskochil (University of Utah Medical Center, Salt Lake City), Nikolay Bochkov (I M Sechenov Moscow Medical Academy, Russia), Elizabeth Schorry (Children's Hospital, Cincinnati), Sigrid Tinschert (Institut für Medizinische Genetik, Berlin), Thaddeus Kelly (University of Virginia Medical Center, Charolettesville), Jana Klein (Cedars-Sinai Medical Center, Los Angeles), Eniko Pivnick (Le Bonheur Children's Medical Center, Memphis), Alison Colley (Newcastle Western Suburbs Hospital, Australia), Marcus Schülke (Freien Universität Berlin), Mauro Signorini (Clinica Pediatrica dell'Universita, Italy), Pierre Wolkenstein (Hopital Henri-Mondor, France), Adrian Danek (Neurologische Universitaetsklinik, Muenchen, Germany).

© 2000 by J Med Genet


This article has been cited by other articles:


Home page
 Hum Mol GenetHome page
B. Hegedus, T.-H. Yeh, D. Y. Lee, R. J. Emnett, J. Li, and D. H. Gutmann
Neurofibromin regulates somatic growth through the hypothalamic-pituitary axis
Hum. Mol. Genet., October 1, 2008; 17(19): 2956 - 2966.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
M Lammert, J M Friedman, H J Roth, R E Friedrich, L Kluwe, D Atkins, T Schooler, and V-F Mautner
Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1
J. Med. Genet., October 1, 2006; 43(10): 810 - 813.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
B Castle, M E Baser, S M Huson, D N Cooper, and M Upadhyaya
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1
J. Med. Genet., October 1, 2003; 40(10): e109 - 109.
[Full Text] [PDF]

Home page
 J Child NeurolHome page
J.M. Friedman
Review Article : Neurofibromatosis 1: Clinical Manifestations and Diagnostic Criteria
J Child Neurol, August 1, 2002; 17(8): 548 - 554.
[Abstract] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER
Terms and conditions relating to subscriptions purchased online  ¦  Website terms and conditions  ¦  Privacy policy
Copyright © 2000 by the BMJ Publishing Group Ltd.