Background/Aims: 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. Conclusion: Elevated HCHR is an early and frequent feature in NF1 children. Taking HCHR into account would facilitate the early detection of NF1.

Keywords:
Head circumference-to-height ratio, Growth/auxology , Growth disorders, Neurofibromatosis type 1, Body proportions
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2013
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