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Wolf-Hirschhorn综合征生长图表（0至4岁）。

Growth charts for Wolf-Hirschhorn syndrome (0-4 years of age).

作者信息

Antonius T, Draaisma J, Levtchenko E, Knoers N, Renier W, van Ravenswaaij C

机构信息

Department of Paediatrics, Radboud University Medical Center Nijmegen, Nijmegen, The Netherlands.

出版信息

Eur J Pediatr. 2008 Jul;167(7):807-10. doi: 10.1007/s00431-007-0595-8. Epub 2007 Sep 15.

DOI:10.1007/s00431-007-0595-8
PMID:17874131
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2413080/
Abstract

Wolf-Hirschhorn syndrome is characterized by severe growth and mental retardation, microcephaly, seizures and 'Greek helmet' facies, caused by partial deletion of the short arm of chromosome 4. Growth charts are given from 0-4 years of age, based on the study of 101 individuals. Use of these specific growth charts is recommended, because standard growth charts are inapplicable for patients with WHS.

摘要

沃尔夫-赫希霍恩综合征的特征为严重的生长发育迟缓和智力障碍、小头畸形、癫痫发作以及“希腊头盔”面容，由4号染色体短臂部分缺失所致。基于对101名个体的研究，给出了0至4岁的生长图表。建议使用这些特定的生长图表，因为标准生长图表不适用于沃尔夫-赫希霍恩综合征患者。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b657/2413080/1f4f1719a29b/431_2007_595_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b657/2413080/6534b1e40f4b/431_2007_595_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b657/2413080/8e5af37f1c83/431_2007_595_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b657/2413080/74750fcfad7a/431_2007_595_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b657/2413080/792827c33e4c/431_2007_595_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b657/2413080/59930245a6c2/431_2007_595_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b657/2413080/1f4f1719a29b/431_2007_595_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b657/2413080/6534b1e40f4b/431_2007_595_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b657/2413080/8e5af37f1c83/431_2007_595_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b657/2413080/74750fcfad7a/431_2007_595_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b657/2413080/792827c33e4c/431_2007_595_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b657/2413080/59930245a6c2/431_2007_595_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b657/2413080/1f4f1719a29b/431_2007_595_Fig6_HTML.jpg

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本文引用的文献

1
Wolf-Hirschhorn (4p-) syndrome.沃尔夫-赫希霍恩（4p-）综合征
Adv Pediatr. 2001;48:75-113.
2
Natural history of Wolf-Hirschhorn syndrome: experience with 15 cases.Wolf-Hirschhorn综合征的自然病史：15例病例经验
Pediatrics. 1999 Apr;103(4 Pt 1):830-6. doi: 10.1542/peds.103.4.830.
3
The Wolf-Hirschhorn syndrome. I. Genetics.沃尔夫-赫希霍恩综合征。I.遗传学。
慢性肾脏病及透析患儿的营养管理。
Pediatr Nephrol. 2025 Jan;40(1):69-84. doi: 10.1007/s00467-024-06444-z. Epub 2024 Jul 10.
4
Nutritional management of the infant with chronic kidney disease stages 2-5 and on dialysis.慢性肾脏病 2-5 期和透析婴儿的营养管理。
Pediatr Nephrol. 2023 Jan;38(1):87-103. doi: 10.1007/s00467-022-05529-x. Epub 2022 Apr 5.
5
Assessment of nutritional status in children with kidney diseases-clinical practice recommendations from the Pediatric Renal Nutrition Taskforce.儿童肾脏病患者营养评估——儿科肾脏营养工作组的临床实践建议。
Pediatr Nephrol. 2021 Apr;36(4):995-1010. doi: 10.1007/s00467-020-04852-5. Epub 2020 Dec 14.
6
Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.十名埃及沃尔夫-贺希洪氏综合征患者的临床和遗传学特征及文献复习。
Mol Genet Genomic Med. 2021 Feb;9(2):e1546. doi: 10.1002/mgg3.1546. Epub 2020 Nov 20.
7
De novo loss-of-function variants in () associate with a subset of Wolf-Hirschhorn syndrome.（某基因）的新生功能丧失变异与部分Wolf-Hirschhorn综合征相关。
Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4). doi: 10.1101/mcs.a004044. Print 2019 Aug.
8
Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome.一名患有沃尔夫-赫希霍恩综合征女孩从出生到最终身高的生长轨迹和青春期节奏。
Endocrinol Diabetes Metab Case Rep. 2018 Apr 12;2018. doi: 10.1530/EDM-18-0001. eCollection 2018.
9
Phenotypic variations in wolf-hirschhorn syndrome.沃夫-赫希洪综合征的表型变异
Balkan J Med Genet. 2014 Dec 11;17(1):23-30. doi: 10.2478/bjmg-2014-0021. eCollection 2014 Jun.
Clin Genet. 1980 Jun;17(6):375-84. doi: 10.1111/j.1399-0004.1980.tb00167.x.
4
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion.一名患有中线融合缺陷儿童的4号至5号染色体短臂缺失。
Humangenetik. 1965;1(5):479-82. doi: 10.1007/BF00279124.
5
[Deficiency on the short arms of a chromosome No. 4].[4号染色体短臂缺失]
Humangenetik. 1965;1(5):397-413.