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Growth in North American white children with neurofibromatosis 1 (NF1)
  1. J Szudek,
  2. P Birch,
  3. J M Friedman,
  4. the National Neurofibromatosis Foundation International Database Participants*
  1. Department of Medical Genetics, The University of British Columbia, 222-6174 University Boulevard, Vancouver, BC V6T 1Z3, Canada
  1. J Szudek, szudek{at}unixg.ubc.ca

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.

  • neurofibromatosis 1
  • stature
  • occipitofrontal circumference
  • macrocephaly

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Footnotes

  • * 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).