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多指畸形的独特病例及一种新的分类系统。

Unique case of polydactyly and a new classification system.

作者信息

Haber Lawrence L, Adams Heiko B, Thompson George H, Duncan Lori S, Didomenico Lawrence A, McCluskey William P

机构信息

Department of Orthopaedic Surgery, University of Mississippi Medical School, Jackson, MS 39216, USA.

出版信息

J Pediatr Orthop. 2007 Apr-May;27(3):326-8. doi: 10.1097/bpo.0b013e3180342ff5.

DOI:10.1097/bpo.0b013e3180342ff5
PMID:17414019
Abstract

Polydactyly of the hands or feet is a common birth deformity. We recently encountered a female infant with a case of a crossed type 1 polydactyly with a mixed polydactyly of the feet. A mixed and crossed polydactyly is a rare finding with only one other reported case. This is the first report of crossed and mixed polydactyly of the feet presenting with 7 complete toes on each foot without syndactyly. In addition to a discussion of the treatment, this case has lead us to propose a more complete and less confusing classification system.

摘要

手足多指(趾)畸形是一种常见的先天性畸形。我们最近遇到一名女婴,患有1型交叉多指(趾)畸形并伴有足部混合型多指(趾)畸形。混合型和交叉型多指(趾)畸形是一种罕见的情况,仅有另一例报道。这是首例关于足部交叉型和混合型多指(趾)畸形且每只脚有7个完整脚趾且无并指(趾)畸形的报告。除了对治疗方法的讨论外,该病例促使我们提出一个更完整且不易混淆的分类系统。

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Genetics of congenital anomalies of the hand.手部先天性畸形的遗传学
World J Orthop. 2022 Nov 18;13(11):949-954. doi: 10.5312/wjo.v13.i11.949.
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Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.外显子组测序揭示了IQCE基因中的一个剪接位点变异,该变异是下肢局限型A轴后多指畸形的潜在病因。
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Familial crossed polysyndactyly in four generations of an Indian family.四代同堂的印度家族性交叉多指(趾)畸形。
World J Pediatr. 2010 May;6(2):177-80. doi: 10.1007/s12519-010-0020-7. Epub 2010 Feb 1.