无症状的双眼形的前轴多指纹症,没有额外的数字呈现耳发育不良:一个罕见的病例报告
1Department of Orthopaedic Surgery and Rehabilitation, The University of Texas Medical Branch, Galveston, Texas.
Foot & ankle specialist
|February 28, 2025
概括
这份病例报告详细介绍了一例罕见的Syndactyly-polydactyly-ear lobe (SPEL) 综合征,该综合征发生在一个成年女性身上. 患者呈现出独特的四肢和耳叶形,突出显示了该综合征.
科学领域:
- 遗传学 遗传学 是一个
- 发展生物学 发展生物学
- 临床医学 临床医学
背景情况:
- 综合症Syndactyly-polydactyly-耳叶 (SPEL) 综合症是一种罕见的先天性四肢形综合症.
- 它的特点是6种不同的人类表型的光谱.
- 这种综合症在医学文献中很少被报道.
研究的目的:
- 报告一名年轻女性SPEL综合征的独特病例.
- 描述特定的临床表现,包括不寻常的特征.
- 为 SPEL 综合征现有的有限文献做出贡献.
主要方法:
- 一个年轻女性患有SPEL综合征的病例报告.
- 临床检查侧重于四肢和耳叶形.
- 对相关医学文献的审查.
主要成果:
- 患者表现出右耳叶形和无症状的前轴性多耳.
- 一个独特的发现是,在没有超数脚的情况下,右幻觉远距离 phalange 的部分重复.
- 该病例呈现成年年龄,没有报告的家族病史,与典型的SPEL综合征呈现不同.
结论:
- 这种病例代表了SPEL综合征的罕见表现,具有明显的临床特征.
- 这些发现扩大了对SPEL综合征的表型变异性的理解.
- 这种罕见和独特的呈现强调了为罕见遗传疾病持续报告病例的重要性.
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