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Craniofacial variation and growth in the Prader-Labhart-Willi syndrome.普拉德-拉巴尔特-威利综合征患者的颅面变异与生长
Am J Phys Anthropol. 1987 Dec;74(4):459-64. doi: 10.1002/ajpa.1330740405.
2
An anthropometric study of 38 individuals with Prader-Labhart-Willi syndrome.一项针对38名普拉德-威利综合征患者的人体测量学研究。
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Characterization of Obesity in the Prader-Labhart-Willi Syndrome: Fatness Patterning.普拉德-拉巴尔特-威利综合征中的肥胖特征:脂肪分布模式。
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Anthropometric study with emphasis on hand and foot measurements in the Prader-Willi syndrome: sex, age and chromosome effects.普拉德-威利综合征的人体测量学研究:重点关注手部和足部测量,涉及性别、年龄及染色体效应。
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Standards for selected anthropometric measurements in Prader-Willi syndrome.普拉德-威利综合征特定人体测量学指标标准。
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Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.39例普拉德-威利综合征患者的临床与细胞遗传学调查
Am J Med Genet. 1986 Mar;23(3):793-809. doi: 10.1002/ajmg.1320230307.
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Sister chromatid exchange analysis in the Prader-Labhart-Willi syndrome.普拉德-拉巴尔特-威利综合征的姐妹染色单体交换分析
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Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome.色素减退:普拉德-威利综合征的常见特征。
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Biology (Basel). 2022 Jul 30;11(8):1148. doi: 10.3390/biology11081148.
2
Craniofacial and dentoalveolar morphology in individuals with Prader-Willi syndrome: a case-control study.颅面和牙颌形态在普拉德-威利综合征个体中的表现:一项病例对照研究。
Orphanet J Rare Dis. 2022 Feb 22;17(1):77. doi: 10.1186/s13023-022-02222-y.
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Development and implementation of electronic growth charts for infants with Prader-Willi syndrome.开发和实施普拉德-威利综合征婴儿的电子生长图表。
Am J Med Genet A. 2012 Nov;158A(11):2743-9. doi: 10.1002/ajmg.a.35581. Epub 2012 Aug 17.
4
The developing role of anthropologists in medical genetics: anthropometric assessment of the Prader-Labhart-Willi syndrome as an illustration.人类学家在医学遗传学中不断发展的作用:以普拉德 - 拉巴尔特 - 威利综合征的人体测量评估为例
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Prader-Willi syndrome: current understanding of cause and diagnosis.普拉德-威利综合征:对病因和诊断的当前认识
Am J Med Genet. 1990 Mar;35(3):319-32. doi: 10.1002/ajmg.1320350306.
6
Anthropometric study with emphasis on hand and foot measurements in the Prader-Willi syndrome: sex, age and chromosome effects.普拉德-威利综合征的人体测量学研究:重点关注手部和足部测量,涉及性别、年龄及染色体效应。
Clin Genet. 1991 Jan;39(1):39-47. doi: 10.1111/j.1399-0004.1991.tb02983.x.
7
Standards for selected anthropometric measurements in Prader-Willi syndrome.普拉德-威利综合征特定人体测量学指标标准。
Pediatrics. 1991 Oct;88(4):853-60.

本文引用的文献

1
Dermatoglyphic features in Prader-Willi syndrome with respect to chromosomal findings.普拉德-威利综合征的皮纹特征与染色体检查结果的关系
Clin Genet. 1984 Apr;25(4):341-6. doi: 10.1111/j.1399-0004.1984.tb02001.x.
2
Syndrome of hypotonia-hypomentia-hypogonadism-obesity (HHHO) or Prader-Willi syndrome.肌张力减退-智力减退-性腺功能减退-肥胖综合征(HHHO)或普拉德-威利综合征。
Am J Dis Child. 1968 May;115(5):588-98. doi: 10.1001/archpedi.1968.02100010590009.
3
Recognizable patterns of human malformation: genetic, embryologic, and clinical aspects.人类畸形的可识别模式:遗传学、胚胎学及临床方面
Major Probl Clin Pediatr. 1970;7:1-368.
4
Prader-Willi syndrome. A resumé of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence.普拉德-威利综合征。32例病例总结,包括一对患病的堂兄妹,其中一人身材和智力正常。
J Pediatr. 1972 Aug;81(2):286-93. doi: 10.1016/s0022-3476(72)80297-x.
5
Metacarpophalangeal pattern profile analysis in Prader-Willi syndrome. A follow-up report on 38 cases.普拉德-威利综合征的掌指纹型分析。38例随访报告。
Clin Genet. 1985 Jul;28(1):27-30. doi: 10.1111/j.1399-0004.1985.tb01213.x.
6
Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.39例普拉德-威利综合征患者的临床与细胞遗传学调查
Am J Med Genet. 1986 Mar;23(3):793-809. doi: 10.1002/ajmg.1320230307.
7
An anthropometric study of 38 individuals with Prader-Labhart-Willi syndrome.一项针对38名普拉德-威利综合征患者的人体测量学研究。
Am J Med Genet. 1987 Feb;26(2):445-55. doi: 10.1002/ajmg.1320260224.
8
Clinical anthropometry and medical genetics: a compilation of body measurements in genetic and congenital disorders.临床人体测量学与医学遗传学:遗传和先天性疾病中身体测量数据汇编
Am J Med Genet. 1986 Oct;25(2):343-59. doi: 10.1002/ajmg.1320250221.
9
The developing role of anthropologists in medical genetics: anthropometric assessment of the Prader-Labhart-Willi syndrome as an illustration.人类学家在医学遗传学中不断发展的作用:以普拉德 - 拉巴尔特 - 威利综合征的人体测量评估为例
Med Anthropol. 1989 Apr;10(4):247-53. doi: 10.1080/01459740.1989.9965971.

普拉德-拉巴尔特-威利综合征患者的颅面变异与生长

Craniofacial variation and growth in the Prader-Labhart-Willi syndrome.

作者信息

Meaney F J, Butler M G

机构信息

Department of Medical Genetics, Indiana University School of Medicine, Indianapolis.

出版信息

Am J Phys Anthropol. 1987 Dec;74(4):459-64. doi: 10.1002/ajpa.1330740405.

DOI:10.1002/ajpa.1330740405
PMID:3442297
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5990430/
Abstract

A study of anthropometric variation and craniofacial growth in individuals with the Prader-Labhart-Willi syndrome (PLWS) illustrates the utility of anthropometry in clinical evaluation and research. Anthropometric measurements, including head length and breadth, minimum frontal diameter, and head circumference, were obtained on 38 PLWS individuals (21 with chromosome 15 deletions) with an age range from 2 weeks to 39 years. No anthropometric differences were found between the two chromosome subgroups. A relative deceleration in the growth of certain craniofacial dimensions (head circumference and length) is suggested by the negative correlations between age and Z-scores for the measurements. Raw values for minimum frontal diameter and head breadth were near or below the 5th percentile curve, while almost all values for head length and circumference fell within normal limits. The data support suggestions that dolichocephaly be considered an early diagnostic feature of PLWS. Furthermore, the status of narrow bifrontal diameter as a major feature of PLWS is confirmed.

摘要

一项关于普拉德-拉巴尔特-威利综合征(PLWS)患者人体测量变异和颅面生长的研究,阐明了人体测量在临床评估和研究中的实用性。对38名年龄在2周至39岁之间的PLWS患者(21名有15号染色体缺失)进行了人体测量,包括头长、头宽、最小额径和头围。两个染色体亚组之间未发现人体测量差异。测量值的年龄与Z评分之间的负相关表明,某些颅面尺寸(头围和头长)的生长相对减速。最小额径和头宽的原始值接近或低于第5百分位曲线,而头长和头围的几乎所有值都在正常范围内。这些数据支持了将长头畸形视为PLWS早期诊断特征的观点。此外,窄双额径作为PLWS主要特征的地位得到了证实。