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15例克鲁宗综合征患者手部的影像学异常表现

Radiographic hand abnormalities in fifteen cases of Crouzon syndrome.

作者信息

Kaler S G, Bixler D, Yu P L

出版信息

J Craniofac Genet Dev Biol. 1982;2(3):205-13.

PMID:7166594
Abstract

Fifteen patients with Crouzon syndrome were evaluated for abnormalities of hand bone length via metacarpophalangeal pattern profile analysis. Data from this group were compared to that from a normal control sample. A discriminant function, utilizing Z scores based on the lengths of three hand bones, was derived and distinguished between the two samples at a rate of 88.3%. The discriminant variables selected in the function represented hand bones that are prominently involved in ACS type V and ACPS type II, syndromes that feature craniofacial abnormalities not unlike those in Crouzon syndrome. The possibility of a common developmental mechanism affecting the hand skeleton in all three of these different conditions is raised.

摘要

通过掌指骨模式轮廓分析,对15例克鲁宗综合征患者的手部骨骼长度异常进行了评估。将该组数据与正常对照样本的数据进行了比较。利用基于三根手部骨骼长度的Z分数得出了一个判别函数,该函数区分两个样本的准确率为88.3%。该函数中选择的判别变量所代表的手部骨骼在Ⅴ型尖头并指综合征和Ⅱ型尖头多指综合征中明显受累,这两种综合征的颅面异常特征与克鲁宗综合征的颅面异常特征相似。这就提出了在这三种不同病症中影响手部骨骼的共同发育机制存在的可能性。

相似文献

1
Radiographic hand abnormalities in fifteen cases of Crouzon syndrome.15例克鲁宗综合征患者手部的影像学异常表现
J Craniofac Genet Dev Biol. 1982;2(3):205-13.
2
Hand anomalies in Crouzon syndrome.克鲁宗综合征中的手部异常。
Skeletal Radiol. 1997 Feb;26(2):113-5. doi: 10.1007/s002560050203.
3
Metacarpophalangeal analysis in Crouzon syndrome: additional evidence for phenotypic convergence with the acrocephalosyndactyly syndromes.
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4
Re: Metacarpophalangeal analysis in Crouzon syndrome.关于:克鲁宗综合征的掌指关节分析
Am J Med Genet. 1998 Dec 4;80(4):439. doi: 10.1002/(sici)1096-8628(19981204)80:4<439::aid-ajmg27>3.0.co;2-t.
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Applications of the pattern variability index (sigma z) to the quantification of dysmorphogenesis in the hand.
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[Freeman-Sheldon syndrome. Three new observations].
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Abnormal timing in the prenatal ossification of vertebral column and hand in Crouzon syndrome.克鲁宗综合征中脊柱和手部产前骨化的异常时间。
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引用本文的文献

1
Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.三代家系中伴有 FGFR2 c.799T>C 突变的 Crouzon 综合征患者出现严重脊柱侧凸、异位骨化和骨关节炎
Mol Genet Genomic Med. 2019 Sep;7(9):e843. doi: 10.1002/mgg3.843. Epub 2019 Jul 18.
2
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.白细胞介素受体 IL11RA 中的突变导致常染色体隐性 Crouzon 样颅缝早闭。
Mol Genet Genomic Med. 2013 Nov;1(4):223-37. doi: 10.1002/mgg3.28. Epub 2013 Aug 19.
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 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.