脆性X综合征男性患者特定人体测量学指标标准。
Standards for selected anthropometric measurements in males with the fragile X syndrome.
作者信息
Butler M G, Brunschwig A, Miller L K, Hagerman R J
机构信息
Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232-2578.
出版信息
Pediatrics. 1992 Jun;89(6 Pt 1):1059-62.
Abstract
Standards (95th, 50th, and 5th percentiles) in fragile X syndrome for weight, height, head circumference, ear length, and testicular volume are reported. For comparison with fragile X syndrome standardized curves, normal control data from the literature were similarly plotted and curves produced. These standards reflect the physical parameters that are frequently abnormal in males with the fragile X syndrome and should be useful in the medical management of patients with this syndrome. The standards may also be used to help identify those individuals, particularly the younger males, for chromosome studies to confirm the clinical impression of the fragile X syndrome.
摘要
报告了脆性X综合征患者体重、身高、头围、耳长和睾丸体积的标准值（第95百分位、第50百分位和第5百分位）。为了与脆性X综合征的标准化曲线进行比较，将文献中的正常对照数据进行类似的绘制并生成曲线。这些标准反映了脆性X综合征男性患者中经常出现异常的身体参数，在该综合征患者的医疗管理中应会有所帮助。这些标准还可用于帮助识别那些个体，尤其是年轻男性，以便进行染色体研究以确认脆性X综合征的临床诊断。
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本文引用的文献
1
NORMATIVE STANDARDS AND COMPARISON OF ANTHROPOMETRIC DATA OF WHITE AND BLACK NEWBORN INFANTS.
Dysmorphol Clin Genet. 1990;4(4):121-137.
2
The fragile X syndrome II: preliminary data on growth and development in males.
Am J Med Genet. 1984 Jan;17(1):175-94. doi: 10.1002/ajmg.1320170111.
3
An anthropometric study of males with the fragile-X syndrome.
Am J Med Genet. 1984 Jan;17(1):159-74. doi: 10.1002/ajmg.1320170110.
4
Compensatory hypertrophy of testicle in unilateral cryptorchidism.
J Clin Endocrinol Metab. 1969 Nov;29(11):1409-13. doi: 10.1210/jcem-29-11-1409.
5
Clinical anthropometry and medical genetics: a compilation of body measurements in genetic and congenital disorders.
Am J Med Genet. 1986 Oct;25(2):343-59. doi: 10.1002/ajmg.1320250221.
6
Fragile X syndrome.
Curr Probl Pediatr. 1987 Nov;17(11):621-74. doi: 10.1016/0045-9380(87)90011-9.
7
Metacarpophalangeal pattern profile analysis in fragile X syndrome.
Am J Med Genet. 1988 Dec;31(4):767-73. doi: 10.1002/ajmg.1320310406.
8
Photoanthropometric analysis of individuals with the fragile X syndrome.
Am J Med Genet. 1988 May-Jun;30(1-2):165-8. doi: 10.1002/ajmg.1320300114.
9
Anthropometry in Martin-Bell syndrome.
Am J Med Genet. 1988 May-Jun;30(1-2):149-64. doi: 10.1002/ajmg.1320300113.
10
Institutional screening for the fragile X syndrome.
Am J Dis Child. 1988 Nov;142(11):1216-21. doi: 10.1001/archpedi.1988.02150110094028.
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