孤立的下症:口四肢降生综合征1A型 - 一个罕见的病例报告
Manish Jha1, Pooja Singh2, Anusree Paul1
1Associate Professor, Department of Orthodontics & Dentofacial Orthopaedics, GNIDSR, Kolkata, India.
Journal of clinical and experimental dentistry
|January 17, 2025
概括
本案例研究详细介绍了一例罕见的单独下症,一个小舌头的情况,在一个22岁的女性. 患者出现了牙问题和下质下,但没有肢体变形.
科学领域:
- 牙科 牙科是指牙科的专业.
- 遗传学 是一个遗传学.
- 发育生物学 发展生物学
背景情况:
- 舌头下,一种罕见的舌头异常,通常与像Oro Mandibular Limb Hypogenesis (OLHS) 这样的综合征有关.
- 没有四肢形的孤立性下垂症非常罕见,被归类为OLHS类型1A.
研究的目的:
- 报告一个单一的孤立低分泌症病例在一个成年女性.
- 突出这一罕见疾病的临床特征和管理考虑.
主要方法:
- 一个22岁的女性患者的病例报告.
- 临床检查包括口外和口内评估.
- 关于孤立的低分泌症和相关综合征的文献综述.
主要成果:
- 患者呈现出一个小的,原始的舌头,下形下,小牙和牙拥挤.
- 没有观察到四肢异常,证实了孤立的低分泌症.
- 面部形状显示 retrognathia 和一个凸起的外观.
结论:
- 孤立的低分泌症可以发生在没有四肢形的情况下,呈现出明显的面和牙异常.
- 这一案例强调了认识到OLHS频谱内的变异的重要性.
- 早期诊断和管理对于解决功能和美学问题至关重要.
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