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Elevated head circumference-to-height ratio is an early and frequent feature in children with neurofibromatosis type 1.

Abstract：

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.

journal_name

Horm Res Paediatr

journal_title

Hormone research in paediatrics

authors

Karvonen M,Saari A,Hannila ML,Lönnqvist T,Dunkel L,Sankilampi U

doi

10.1159/000347119

subject

Has Abstract

pub_date

2013-01-01 00:00:00

pages

97-102

issue

2

eissn

1663-2818

issn

1663-2826

pii

000347119

journal_volume

79

pub_type

临床试验,杂志文章,多中心研究

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