Wolf-Hirschhorn综合征的延长生长曲线(4p-)。

IF 1.7 4区 生物学 Q3 GENETICS & HEREDITY
Amy R U L Calhoun, Amanda Lortz, T Charles Casper, John C Carey
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引用次数: 0

摘要

狼-赫希霍恩综合征(WHS)是一种罕见的、高度可变的连续基因缺失综合征,由4号染色体短臂远端缺失引起。患有这种疾病的人在产前会出现各方面的发育不良,以及神经系统表现、发育障碍和独特的面部外观。有两个先前发表的WHS个人增长图表。Antonius及其同事研究了101名0-4岁的儿童,Shimojima和Yamamoto研究了34名年龄在15个月到24岁之间的儿童。我们提供了另外65名患者从出生到18岁的详细的长/高和体重曲线以及从出生到2岁的枕额围曲线。我们的数据为WHS患者的成长模式提供了额外的见解。正如预期的那样,对于所有参数,这些个体通常比典型生长的个体小。出乎意料的发现包括几乎没有青春期的生长突增,以及与典型生长范围重叠的个体数量高于预期。生长图表是儿科医疗保健的重要组成部分,在异常生长是主要特征的情况下,综合征特异性生长图表尤为重要。这些额外的生长图表是对WHS文献的有用补充,特别是提供了青春期生长和最终成年身高的额外信息。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Extended Growth Curves for the Wolf-Hirschhorn Syndrome (4p-).

Wolf-Hirschhorn syndrome (WHS) is a rare, highly variable contiguous gene deletion syndrome caused by deletions of the distal portion of the short arm of chromosome 4. Individuals with this disorder have prenatal onset of poor growth of all dimensions, along with neurological manifestations, developmental disability, and distinctive facial appearance. There are two previously published growth charts for individuals with WHS. Antonius and colleagues included 101 children aged 0-4 years, and Shimojima and Yamamoto included 34 individuals ranging from 15 months to 24 years of age. We present detailed length/height and weight curves on an additional 65 patients from birth to 18 years of age and occipitofrontal circumference curves from birth to 2 years of age. Our data provide additional insight into growth patterns for individuals with WHS. As expected, these individuals are generally smaller than typically growing individuals for all parameters. Unexpected findings included near absence of the pubertal growth spurt and a higher-than-expected number of individuals overlapping the typical growing range. Growth charts are a critical part of pediatric healthcare, and syndrome-specific growth charts are particularly important in conditions where abnormal growth is a major feature. These additional growth charts serve as a useful addition to the literature on WHS, particularly providing additional information on growth through puberty and final adult height.

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来源期刊
CiteScore
3.50
自引率
5.00%
发文量
432
审稿时长
2-4 weeks
期刊介绍: The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .
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