title: Elevated head circumference-to-height ratio is an early and frequent feature in children with neurofibromatosis type 1.
abstract: OBJECTIVE
  Children with neurofibromatosis type 1 (NF1) tend to be macrocephalic and short. Our aim was to define the incidence and diagnostic accuracy of elevated head circumference-to-height ratio (HCHR) in children with NF1 and to assess if elevated HCHR would facilitate early diagnosis of NF1.
  
  
  METHODS
  Retrospective analysis of growth and health data of 80 NF1 patients aged 0-7 years was performed. The incidence and diagnostic accuracy of elevated HCHR for NF1 was analyzed using receiver operating characteristic curves.
  
  
  RESULTS
  The median age when the first elevated (≥2.0 SDS) HCHR value was detected was 0.3 years (range 0.0-5.3). At the median age of diagnosis (3.6 years), 53.8% of NF1 children exhibited elevated HCHR. The diagnostic accuracy of HCHR alone was 0.78 (95% CI 0.72-0.84), but in comparison with the seven National Institutes of Health diagnostic criteria for NF1, elevated HCHR was the second most prevalent feature.
  
  
  CONCLUSIONS
  Elevated HCHR is an early and frequent feature in NF1 children. Taking HCHR into account would facilitate the early detection of NF1.
authors: Department of Pediatrics, School of Medicine, University of Eastern Finland, Kuopio, Finland. marjo.karvonen@uef.fi
authors: Marjo
authors: M
authors: Karvonen
authors: Antti
authors: A
authors: Saari
authors: Marja-Leena
authors: ML
authors: Hannila
authors: Tuula
authors: T
authors: Lönnqvist
authors: Leo
authors: L
authors: Dunkel
authors: Ulla
authors: U
authors: Sankilampi
mesh_terms: D017668:Age of Onset; D001827:Body Height; D002648:Child; D002675:Child, Preschool; D005260:Female; D006257:Head; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009456:Neurofibromatosis 1 / Q000473:pathology* / Q000503:physiopathology*; D012189:Retrospective Studies