Leppävirta Jussi, Kallionpää Roope A, Uusitalo Elina, Vahlberg Tero, Pöyhönen Minna, Peltonen Juha, Peltonen Sirkku
Department of Dermatology and Venereology, University of Turku, Turku, Finland.
Department of Dermatology, Turku University Hospital, Turku, Finland.
Am J Med Genet A. 2019 Jul;179(7):1173-1183. doi: 10.1002/ajmg.a.61161. Epub 2019 Apr 24.
Neurofibromatosis type 1 (NF1) is associated with reduced adult height, but there are no cohort studies on birth size. This retrospective study includes a cohort of 1,410 persons with NF1 and a matched comparison cohort from the general population. Figures for birth size were retrieved from the administrative registers of Finland, and the data were converted to standard deviation scores (SDS), defined as standard deviation difference to the reference population. The birth weight among infants with NF1 was higher than among infants without the disorder (adjusted mean difference [95% confidence interval]: 0.53 SDS [0.19-0.87]), as was the head circumference at birth (0.58 SDS [0.26-0.90]). The birth length of the NF1 infants did not differ significantly from the comparison cohort. The birth weight in the group consisting of NF1 and non-NF1 infants of NF1 mothers was lower than among infants of mothers in the comparison cohort (-0.28 SDS [-0.51 to -0.06]), as was the birth length (-0.22 SDS [-0.45 to 0.00]). In conclusion, the birth weight and head circumference of persons with NF1 are significantly higher than those of persons without the disorder. NF1 of the mother reduces birth weight and birth length of the infant.
1型神经纤维瘤病(NF1)与成人身高降低有关,但尚无关于出生时大小的队列研究。这项回顾性研究纳入了1410名NF1患者队列以及来自普通人群的匹配对照队列。出生时大小的数据取自芬兰的行政登记处,并将数据转换为标准差分数(SDS),定义为与参考人群的标准差差异。NF1婴儿的出生体重高于无该疾病的婴儿(校正平均差异[95%置信区间]:0.53 SDS[0.19 - 0.87]),出生时头围也是如此(0.58 SDS[0.26 - 0.90])。NF1婴儿的出生身长与对照队列无显著差异。母亲患有NF1的NF1和非NF1婴儿组的出生体重低于对照队列中母亲所生婴儿(-0.28 SDS[-0.51至-0.06]),出生身长也是如此(-0.22 SDS[-0.45至0.00])。总之,NF1患者的出生体重和头围显著高于无该疾病的人。母亲患有NF1会降低婴儿的出生体重和出生身长。