迈尔综合征呈现与先天性近端放射突同位症:一个病例报告
I-Shou Lin1,2, Hsiu-Jung Lee1, Wei-Ning Chang3
1Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, TWN.
Cureus
|March 2, 2026
概括
迈尔氏综合征 (MS) 是一种罕见的遗传疾病. 这一案例突出了先天性近端放射性突突结症作为一种新的骨表现,扩大了MS的临床谱.
科学领域:
- 遗传学 遗传学 是一个
- 罕见疾病 罕见疾病
- 骨发育不良症 骨发育不良症
背景情况:
- 迈尔综合征 (MS) 是一种罕见的自体主导性疾病.
- 多发性硬化症表现出多系统的特征,包括身高矮,智力障碍,形态障碍以及骨,心肺和性异常.
研究的目的:
- 报告一个台湾患者患有Myhre综合征的病例.
- 描述先天性近位放射性突突结症 (PRUS) 作为MS的新型骨表现.
- 扩大对Myhre综合征的临床理解和认可.
主要方法:
- 对一名11岁的男性患者进行临床评估,怀疑患有粘膜多糖症.
- 基因分析以确定致病变体.
- 与Myhre综合征诊断标准的表型相关性.
主要成果:
- 在SMAD4中发现了一种致病性异构错误变体 (c.1498A>G,p.Ile500Val),证实了Myhre综合征.
- 这位患者表现出MS的典型特征和以前未报告的骨异常,先天性近接放射突突 (PRUS).
结论:
- 这个病例扩大了已知的Myhre综合征的临床谱.
- 先天性近端放射性突结合症 (PRUS) 应被认为是MS的罕见骨表现.
- 通过报告多样化的表型表现,促进了MS的更好的临床识别.
更多相关视频
08:03Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
324
07:45The Use of Mixed Reality in Custom-Made Revision Hip Arthroplasty: A First Case Report
Published on: August 4, 2022
3.9K
相关概念视频
Bones of the Upper Limb: Ulna
10.2K
The ulna and radius are parallel bones of the antebrachium or the forearm. The ulna lies medially and consists of a bony tip called the olecranon process at its proximal end. This hook-like projection articulates with the olecranon fossa of the humerus and forms the "hinged" ulnohumeral part of the elbow joint. This joint facilitates forearm extension and flexion while preventing its hyperextension. Similarly, the coronoid process, another bony projection on the proximal/anterior side...
10.2K
Bones of the Upper Limb: Radius
10.6K
The radius is longer of the two bones that make up the human antebrachium or forearm. At the proximal end, the radius articulates with the capitulum of the humerus and the radial notch of the ulna to form the elbow joint. At the distal end, the radius articulates with the ulna via the ulnar notch, forming the distal radioulnar joint. Distally, the radius also attaches to the carpal wrist bones (scaphoid and lunate) to form the radiocarpal joint.
The radius has a nail-shaped head, and a...
The radius has a nail-shaped head, and a...
10.6K
Bones of the Upper Limb: Humerus
13.1K
The upper limb consists of the arm, forearm, wrist, and hand bones. The humerus is the single bone of the upper arm region. Proximally, it has a large, spherical, smooth head that articulates with the glenoid cavity of the scapula to form the glenohumeral or shoulder joint. The margin of the head is the anatomical neck, a residual epiphyseal plate. Laterally it extends to form bony projections called the greater tubercle and the lesser tubercle. Next to the tubercles is the surgical neck, a...
13.1K
