新生儿所有四肢的家族性轴后多指畸形

Enebeli Victor, Abhulimen Victor
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引用次数: 0

摘要

背景:多指畸形是一种常见的先天性手脚畸形,其特征是超过五个手指和脚趾。多指畸形是最常见的遗传性骨骼疾病之一。多指畸形可以是家族性的或散发性的。方法:本文报道一例家族性轴后多指畸形的男性新生儿包括所有四肢。母亲有双上肢轴后多指畸形史,仅包括软组织,而指数患者在多余的手指上骨骼发育良好。结论:多指畸形在出生时很容易诊断,但在产前早期的早期诊断为咨询、调查综合征相关性或家族基因传递和计划治疗提供了机会。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Familial Post-Axial Polydactyly of all Limbs in a Neonate
Background: Polydactyly is a common congenital abnormality of the hands and feet characterized by more than five fingers and toes. Polydactyly is amongst the commonest inherited skeletal conditions. Polydactyly can be familial or sporadic. Methods: This article presents a case of familial postaxial polydactyly in a male neonate involving all four limbs seen in our hospital. The mother has history of postaxial polydactyly in both upper limbs consisting only of soft tissue unlike the index patient who has well developed bone on the extra digit. Conclusion: Polydactyly is easily diagnosed at birth however earlier diagnosis during the early antenatal period provides an opportunity for counselling, investigation for syndromic associations or familial gene transmission and planning treatment.
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