Asymptomatic Preaxial Polydactyly of Bifid Hallux Without a Supernumerary Digit Presenting With Earlobe Malformations: A Rare Case Report.

Chanel Houston Perkins
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Abstract

Syndactyly-polydactyly-ear lobe (SPEL) syndrome is a rare, genetic, congenital limb malformation syndrome that can be characterized by 6 different human phenotypes. We report a rare case of SPEL syndrome in a young woman with right earlobe malformations and asymptomatic preaxial polydactyly with partial duplication of the right hallucal distal phalanx without a supernumerary toe. Unique aspects of our patient's clinical presentation include lack of a supernumerary digit with a bifurcated distal phalanx, associated earlobe malformations, adult age, and no reported familial history of SPEL syndrome. Syndactyly-polydactyly-ear lobe syndrome has not been reported in the literature since 1976, making the present case particularly noteworthy.Level of Evidence: Level 5, Case Report.

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无症状的双趾前趾多指畸形伴耳垂畸形1例。
并指-多指-耳垂综合征(SPEL)是一种罕见的遗传性先天性肢体畸形综合征,可表现为6种不同的人类表型。我们报告一例罕见的SPEL综合征的年轻女性右耳垂畸形和无症状的前轴多指与部分重复的右幻觉远端指骨没有多余的脚趾。本例患者临床表现的独特之处包括:缺少多指伴远端指骨分叉、相关耳垂畸形、成年、无SPEL综合征家族史。并指-多指-耳垂综合征自1976年以来没有文献报道,使得本病例特别值得注意。证据级别:5级,病例报告。
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