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Dermatoglyphics in patients with Cenani-Lenz type syndactyly: studies in a new case.

作者信息

Elçioglu N, Atasu M, Cenani A

机构信息

Department of Genetics, Cerrahpasa Medical Faculty, Istanbul University, Turkey.

出版信息

Am J Med Genet. 1997 Jun 27;70(4):341-5. doi: 10.1002/(sici)1096-8628(19970627)70:4<341::aid-ajmg1>3.0.co;2-w.

DOI:10.1002/(sici)1096-8628(19970627)70:4<341::aid-ajmg1>3.0.co;2-w
PMID:9182770
Abstract

We describe an additional case of Cenani-Lenz syndactylism in a 4 1/2-year-old boy from a consanguineous Turkish family. The digital anomalies consisted partly of synostosis and partly of malformations of the phalanges. Although there was no radio-ulnar synostosis or abnormality of the bones of the feet, the findings are comparable to those described in the Cenani-Lenz type of syndactyly. We analysed the dermatoglyphics of our patient and compared them with those previously reported. We also investigated the relationship between the bony malformations and the dermatoglyphic patterns in our patient and in the literature.

摘要

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引用本文的文献

1
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.塞纳尼-伦茨并指综合征——一个孤立性并指家族的病例报告
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2
Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.LRP4 第四 β -propeller 结构域中的突变与第三和第四指融合的孤立并指症相关。
Hum Mutat. 2018 Jun;39(6):811-815. doi: 10.1002/humu.23417. Epub 2018 Mar 22.
3
Cenani-Lenz syndrome-like limb anomaly with more severe involvement of left side.
类Cenani-Lenz综合征肢体异常,左侧受累更严重。
BMJ Case Rep. 2012 Jul 13;2012:bcr0120125634. doi: 10.1136/bcr.01.2012.5634.
4
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.LRP4 突变改变 Wnt/β-连环蛋白信号通路,导致 Cenani-Lenz 综合征的肢体和肾脏畸形。
Am J Hum Genet. 2010 May 14;86(5):696-706. doi: 10.1016/j.ajhg.2010.03.004. Epub 2010 Apr 8.