Robinow综合征的掌指纹型分析
Metacarpophalangeal pattern profile analysis in Robinow syndrome.
作者信息
Butler M G, Gale D D, Meaney F J, Wadlington W B, Robinow M
出版信息
Am J Med Genet. 1987 May;27(1):219-23. doi: 10.1002/ajmg.1320270125.
Abstract
We analyzed the metacarpophalangeal pattern profile (MCPP) on 15 individuals with Robinow syndrome and calculated a mean Robinow syndrome profile. Correlation studies confirm clinical homogeneity of the hand profile in the Robinow syndrome. Discriminant analysis of individuals with Robinow syndrome compared with a sample of normal individuals produces a function of 6 MCPP variable that may provide a useful tool for diagnosis.
摘要
我们分析了15例Robinow综合征患者的掌指纹型图谱（MCPP），并计算出Robinow综合征的平均图谱。相关性研究证实了Robinow综合征患者手部图谱在临床上的同质性。将Robinow综合征患者与正常个体样本进行判别分析，得出一个由6个MCPP变量组成的函数，该函数可能为诊断提供有用的工具。
相似文献
1
Metacarpophalangeal pattern profile analysis in Robinow syndrome.Robinow综合征的掌指纹型分析
Am J Med Genet. 1987 May;27(1):219-23. doi: 10.1002/ajmg.1320270125.
2
Metacarpophalangeal pattern profile analysis in diastrophic dysplasia.黏多糖贮积症Ⅵ型的掌指纹型分析
Am J Med Genet. 1987 Nov;28(3):685-9. doi: 10.1002/ajmg.1320280316.
3
Metacarpophalangeal pattern profile analysis in Sotos syndrome.索托斯综合征的掌指纹型分析
Am J Med Genet. 1985 Apr;20(4):625-9. doi: 10.1002/ajmg.1320200408.
4
Metacarpophalangeal pattern profile analysis in Noonan syndrome.努南综合征的掌指纹型分析
Am J Med Genet. 2000 May 15;92(2):128-31.
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
Metacarpophalangeal pattern profile analysis in Sotos syndrome: a follow-up report on 34 subjects.索托斯综合征的掌指纹型分析：34例受试者的随访报告
Am J Med Genet. 1988 Jan;29(1):143-7. doi: 10.1002/ajmg.1320290118.
7
Metacarpophalangeal pattern profile analysis in Brachmann-de Lange syndrome.布腊克曼-德朗热综合征的掌指纹型分析
Am J Med Genet. 1993 Nov 15;47(7):1003-5. doi: 10.1002/ajmg.1320470713.
8
Metacarpophalangeal pattern profile analysis in Williams syndrome.威廉姆斯综合征的掌指纹型分析
Am J Med Genet. 1993 Sep 15;47(4):471-4. doi: 10.1002/ajmg.1320470407.
9
Extremity anomalies associated with Robinow syndrome.与罗宾诺综合征相关的肢体异常。
Am J Med Genet A. 2021 Dec;185(12):3584-3592. doi: 10.1002/ajmg.a.61884. Epub 2020 Sep 25.
10
Metacarpophalangeal pattern profile analysis in Rubinstein-Taybi syndrome.
Am J Med Genet Suppl. 1990;6:48-50. doi: 10.1002/ajmg.1320370608.
引用本文的文献
1
Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome.9号染色体间质性缺失，即int del(9)(9q22.31-q31.2)，包括导致多发性基底细胞痣综合征和Robinow/短指1综合征的基因。
Eur J Pediatr. 2003 Feb;162(2):100-3. doi: 10.1007/s00431-002-1116-4. Epub 2002 Dec 10.
2
Metacarpophalangeal pattern profile analysis in Noonan syndrome.努南综合征的掌指纹型分析
Am J Med Genet. 2000 May 15;92(2):128-31.
3
Acrodysostosis: report of a 13-year-old boy with review of literature and metacarpophalangeal pattern profile analysis.肢端发育不全症：一名13岁男孩的病例报告及文献复习与掌指骨模式轮廓分析
Am J Med Genet. 1988 Aug;30(4):971-80. doi: 10.1002/ajmg.1320300416.
4
Robinow syndrome with parental consanguinity.
Eur J Pediatr. 1989 Jun;148(7):652-3. doi: 10.1007/BF00441525.
本文引用的文献
1
[Robinow's syndrome with dominant transmission].
Arch Fr Pediatr. 1982 Aug-Sep;39(7):447-8.
2
Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate.罗宾诺综合征的男性间传播。其与唇腭裂的关联发生情况。
Am J Dis Child. 1982 Jul;136(7):594-7. doi: 10.1001/archpedi.1982.03970430026007.
3
Standards for limb bone length ratios in children.
Radiology. 1982 May;143(2):433-6. doi: 10.1148/radiology.143.2.7071345.
4
A newly recognized dwarfing syndrome.一种新发现的侏儒综合征。
Am J Dis Child. 1969 Jun;117(6):645-51. doi: 10.1001/archpedi.1969.02100030647005.
5
Metacarpophalangeal length in the evaluation of skeletal malformation.掌指长度在骨骼畸形评估中的应用
Radiology. 1972 Nov;105(2):375-81. doi: 10.1148/105.2.375.
6
Fetal face syndrome with mental retardation.
Humangenetik. 1974 Jun 26;23(1):79-81. doi: 10.1007/BF00295686.
7
Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome).
Am J Dis Child. 1973 Aug;126(2):202-5. doi: 10.1001/archpedi.1973.02110190176013.
8
Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.掌指骨形态轮廓在骨骼畸形评估中的应用
Radiology. 1972 Jul;104(1):1-11. doi: 10.1148/104.1.1.
9
Metacarpophalangeal pattern profile analysis in clinical genetics: an applied anthropometric method.临床遗传学中的掌指纹型分析：一种应用人体测量学方法
Am J Phys Anthropol. 1986 Jun;70(2):195-201. doi: 10.1002/ajpa.1330700206.
10
Robinow syndrome: report of two patients and review of literature.罗宾诺综合征：两例患者报告及文献综述
Clin Genet. 1987 Feb;31(2):77-85. doi: 10.1111/j.1399-0004.1987.tb02773.x.
Zotero 插件