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Type II familial synpolydactyly: report on two families with an emphasis on variations of expression

机译:II型家族性多指症:报告两个家庭,重点是表达方式的变化

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摘要

Type II familial synpolydactyly is rare and is known to have variable expression. However, no previous papers have attempted to review these variations. The aim of this paper was to review these variations and show several of these variable expressions in two families. The classic features of type II familial synpolydactyly are bilateral synpolydactyly of the third web spaces of the hands and bilateral synpolydactyly of the fourth web spaces of the feet. Several members of the two families reported in this paper showed the following variations: the third web spaces of the hands showing syndactyly without the polydactyly, normal feet, concurrent polydactyly of the little finger, concurrent clinodactyly of the little finger and the ‘homozygous' phenotype. It was concluded that variable expressions of type II familial synpolydactyly are common and awareness of such variations is important to clinicians.
机译:II型家族性多指畸形是罕见的,并且已知具有可变表达。但是,以前没有论文尝试审查这些变化。本文的目的是回顾这些变化并显示两个家族中的一些变量表达。 II型家族性合多指征的典型特征是手的第三网状空间的双侧同义双足和脚的第四网状空间的双侧同义双足。本文报道的两个家族的几个成员表现出以下变化:手的第三个网状区域表现为无多指,正常足,小指同时有多指,小指同时有多齿和“纯合”表型。得出的结论是,II型家族性多指症的可变表达很普遍,对这种变异的认识对临床医生很重要。

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  • 作者

    Al-Qattan, Mohammad M;

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  • 年度 2010
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  • 原文格式 PDF
  • 正文语种 en
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