腰部长度缺陷与后轴多动:一个病例报告
Mary Morcos1, Wee Leon Lam2, Andrea S Bauer3
1Harvard Medical School, Boston, Massachusetts.
JBJS case connector
|March 14, 2025
概括
本案例报告详细介绍了一种罕见的婴儿双侧腰纵向缺陷 (ULD) 和后轴多肢形 (PAPD) 的组合. 这一发现扩大了已知的上肢先天性异常的范围.
科学领域:
- 儿科整形外科 儿科整形外科
- 临床遗传学 临床遗传学
- 发展生物学 发展生物学
背景情况:
- 椎纵向缺陷 (ULD) 是一种罕见的先天性异常,影响椎和相关结构.
- 后轴多指纹症 (PAPD) 涉及手部或脚部侧存在额外的数字.
- 乌尔德和PAPD同时发生的情况非常罕见,以前没有描述过.
研究的目的:
- 在婴儿中报告双边ULD与并发PAPD的独特病例.
- 讨论潜在的遗传机制,包括Sonic Hedgehog-Patched-Gli路径,参与了这种双重异常.
- 扩大对ULD表型和先天性上肢差异的理解.
主要方法:
- 一个2个月大的男婴的案例介绍.
- 临床检查和诊断成像 (详细信息未提供摘要).
- 关于ULD,PAPD和相关遗传途径的文献综述.
主要成果:
- 一名男性婴儿出现了双侧节纵向缺陷和后轴多肢性.
- 这种特殊的异常组合在医学文献中以前没有被记录.
- 这一案例凸显了先天性上肢形的复杂性.
结论:
- ULD和PAPD的同时发生代表了先天肌肉骨异常中的新型现象.
- 对于ULD患者来说,全面的评估至关重要,考虑到与其他四肢差异和心脏异常的潜在关联.
- 需要进一步研究先天性上肢差异的遗传基础.
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