FGFR3-related hypochondroplasia: longitud na growth in 57 children with the p.Asn540Lys mutation
FGFR3-related hypochondroplasia: longitud na growth in 57 children with the p.Asn540Lys mutation
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DOI：
10.1515/jpem-2018-0046
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发表时间：
2018-11-01
影响因子：
1.4
通讯作者：
Fano, Virginia
中科院分区：
文献类型：
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作者：
Alejandra Arenas, Maria;del Pino, Mariana;Fano, Virginia
背景资料：患有软骨发育不良（HCH）的儿童，具有FGFR 3突变c.1620C>A或c.1620C>G（p.Asn540Lys）的儿童似乎比没有这些突变的HCH儿童具有更严重的表型。我们描述的变化，身高，腿长和身体比例在一个回顾性队列的儿童与六氯环己烷相关的p。Asn 540 Lys突变，我们比较了他们与Argentine population.Methods：人体测量最初采取和后续的相同的观察员，与标准化的技术。计算坐高/身高和头围/身高比作为身体比例失调指标。为了与阿根廷人口的身高平均值，百分位数的身高，腿长和身体的比例估计LMS method.Results：样本包括57 HCH儿童（29名男性和28名女性）之间的年龄为0-18岁。每名儿童测量身高的中位数（四分位距）为8（4.3，13），坐高为7（0，12），头围为7（4，12.8）。腿长从出生时的17厘米增加到青少年的约54厘米，比非六氯环己烷人群的腿长短25厘米。坐高从出生时的39厘米增加到青少年的81厘米，比非六氯环己烷青少年的平均身高低7厘米。平均（范围）成人身高分别为143.6厘米（131 - 154.5）和130.8厘米（124 - 138.Conclusions）为男性和女性，分别为：之间的不和谐的增长，受影响的躯干和严重影响的四肢决定身体比例失调的HCH。
Background: Children with hypochondroplasia (HCH), who have FGFR3 mutations c.1620C>A or c.1620C>G (p.Asn540Lys) appear to have a more severe phenotype than those with HCH without these mutations. We describe the change in height, leg length and body proportions in a retrospective cohort of children with HCH related-p.Asn540Lys mutation and we compared them with Argentine population.Methods: Anthropometric measurements were initially taken and followed up by the same observer, with standardized techniques. Sitting height/height and head circumference/height ratio were calculated as a body disproportion indicator. In order to make a comparison with the Argentine population height average, centiles of height, leg length and body proportions were estimated by the LMS method.Results: The sample consisted of 57 HCH children (29 males and 28 females) between the ages of 0-18 years. The median (interquartile range) number of measurements per child was 8 (4.3, 13) for height, 7 0, 12) for sitting height and 7.5 (4, 12.8) for head circumference. Leg length increased from 17 cm at birth to approximately 54 cm in adolescents, 25 cm shorter than the leg length in non-HCH populations. Sitting height increased from 39 cm at birth to 81 cm in adolescents, 7 cm below mean in non-HCH adolescents. Mean (range) adult height were 143.6 cm (131 154.5) and 130.8 cm (124 138) for males and females, respectively.Conclusions: The disharmonic growth between the less affected trunk and the severely affected limbs determine body disproportion in HCH.