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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。

Anthropometric study with emphasis on hand and foot measurements in the Prader-Willi syndrome: sex, age and chromosome effects.

作者信息

Butler M G, Haynes J L, Meaney F J

机构信息

Department of Pediatrics, Vanderbilt University School of Medicine, Nashville.

出版信息

Clin Genet. 1991 Jan;39(1):39-47. doi: 10.1111/j.1399-0004.1991.tb02983.x.

DOI:10.1111/j.1399-0004.1991.tb02983.x
PMID:1997214
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5985666/
Abstract

Age, sex and chromosome effects on weight, height, sitting height, three head dimensions, and five hand and three foot measurements were analyzed from 57 patients (35 males and 22 females) with the Prader-Willi syndrome (PWS). No significant differences were observed in anthropometric data between PWS patients with the 15q chromosome deletion and those with normal chromosomes. Preschool children were found to have dolichocephaly, while hand and foot measurements, stature and sitting height were within normal range, although foot size was smaller than hand size in females when compared with PWS males. However, anthropometric measurements, excluding weight, head length and ankle breadth, were less than -2 SD in adult patients. Abnormal growth patterns apparently exist with significant negative correlations with age, particularly in PWS males, for height, sitting height, head circumference, and hand and foot measurements, but a significant positive correlation for weight was found in patients below 10 years of age.

摘要

对57例普拉德-威利综合征(PWS)患者(35例男性和22例女性)的年龄、性别和染色体对体重、身高、坐高、三个头部尺寸以及五项手部和三项足部测量结果的影响进行了分析。15q染色体缺失的PWS患者与染色体正常的患者在人体测量数据上未观察到显著差异。发现学龄前儿童有长头畸形,而手部和足部测量、身高和坐高在正常范围内,不过与PWS男性相比,女性的足尺寸小于手尺寸。然而,成年患者的人体测量值(体重、头长和踝宽除外)小于-2标准差。明显存在异常生长模式,与年龄呈显著负相关,尤其是在PWS男性中,涉及身高、坐高、头围以及手部和足部测量,但10岁以下患者的体重呈显著正相关。

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本文引用的文献

1
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。
Med Anthropol Q. 1989 Sep;3(3):294-305. doi: 10.1525/maq.1989.3.3.02a00080. Epub 2009 Oct 28.
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Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.15号染色体异常与普拉德-威利综合征:40例随访报告
Am J Hum Genet. 1982 Mar;34(2):278-85.
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Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.15号染色体异常与普拉德-威利综合征:细胞遗传学分析
Hum Genet. 1984;66(4):313-34. doi: 10.1007/BF00287636.
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The Prader-Willi syndrome: a study of 40 patients and a review of the literature.普拉德-威利综合征:40例患者的研究及文献综述
Medicine (Baltimore). 1983 Mar;62(2):59-80.
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Deletion of chromosome 15 (q11-13) in a Prader-Labhart-Willi syndrome clinic population.普拉德-威利综合征临床人群中15号染色体(q11-13)的缺失
Am J Med Genet. 1984 Feb;17(2):485-95. doi: 10.1002/ajmg.1320170211.
6
Parental origin of chromosome 15 deletion in Prader-Willi syndrome.普拉德-威利综合征中15号染色体缺失的亲本来源
Lancet. 1983 Jun 4;1(8336):1285-6. doi: 10.1016/s0140-6736(83)92745-9.
7
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.
8
Normal values for selected physical parameters: an aid to syndrome delineation.选定身体参数的正常数值:对综合征描述的辅助手段。
Birth Defects Orig Artic Ser. 1974;10(13):1-16.
9
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.
10
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