与哈森 - 吉尔福德孕症综合征相关的头面部特征 - 一个病例报告
Devika S Pillai1, Kumuda Rao, Renita Lorina Castelino
1Department of Oral Medicine and Radiology, AB Shetty Memorial Institute of Dental Sciences, Nitte University, Mangalore - 575018, India. spillaidevika@gmail.com.
Stomatologija
|January 12, 2026
概括
哈森-吉尔福德进发症综合征 (HGPS) 是一种罕见的疾病,导致过早衰老,可以出现面异常. 这一案例突出显示了一个11岁男孩的口唇裂和 palatal HGPS.
科学领域:
- 遗传学和罕见疾病.
- 儿科医学 儿科医学 儿科医学
- 医学案例报告,病例报告.
背景情况:
- 哈森-吉尔福德进发症综合征 (HGPS) 是一种极其罕见的遗传性疾病.
- HGPS的特点是加速衰老,影响皮肤,头发,指甲,心血管和骨系统.
- 面异常是HGPS的公认表现.
研究的目的:
- 报告一个罕见的HGPS病例与特定的面异常.
- 为了解HGPS表型变异性做出贡献.
- 为了记录与口唇裂相关的HGPS.
主要方法:
- 一个被诊断患有HGPS的11岁男孩的案例介绍.
- 临床检查侧重于面特征.
- 对相关医学文献的审查.
主要成果:
- 这位患者呈现出Hutchinson-Gilford Progeria综合征的特征.
- 该病例表现出显著的头骨面部异常,包括裂唇和裂 palates.
- 这篇介绍强调了HGPS与特定的面形之间的关联.
结论:
- 哈森-吉尔福德进发症综合征可以表现为各种面表现型.
- HGPS和口唇裂的同时出现是一个罕见但重要的发现.
- 需要进一步的研究来阐明HGPS和面异常之间的遗传和发育联系.
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