Elevated head circumference-to-height ratio is an early and frequent feature in children with neurofibromatosis type 1.
作者： Marjo Karvonen , Antti Saari , Marja-Leena Hannila , Tuula Lönnqvist , Leo Dunkel
DOI: 10.1159/000347119
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摘要: Background/Aims: Children with neurofibromatosis type 1 (NF1) tend to be macrocephalic and short. Our aim was define the incidence diagnostic accuracy of elevated head circumference-to-height ratio (HCHR) in children NF1 assess if HCHR would facilitate early diagnosis NF1. Methods: Retrospective analysis growth health data 80 patients aged 0-7 years performed. The for analyzed using receiver operating characteristic curves. Results: median age when first (≥2.0 SDS) value detected 0.3 (range 0.0-5.3). At (3.6 years), 53.8% exhibited HCHR. alone 0.78 (95% CI 0.72-0.84), but comparison seven National Institutes Health criteria NF1, second most prevalent feature. Conclusion: Elevated is an frequent feature children. Taking into account detection
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