与先天性上肢差异相关的遗传综合征
Adham Elsherbini1, Jonah Perlmutter1, Adam Mosa2
1Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
The Journal of hand surgery
|February 14, 2026
概括
先天性上肢差异与影响胚胎发育的遗传突变有关. 通过成像和遗传检测进行早期识别对于协调护理和改善结果至关重要.
科学领域:
- 发展生物学 发展生物学
- 遗传学 是一个遗传学.
- 整形外科 整形外科 整形外科
背景情况:
- 出生的上肢差异影响每10,000个活产儿中有20-30个,往往需要手术.
- 这些差异可以是孤立的或是系统性综合征的一部分,源于胚胎信号通路中断.
研究的目的:
- 审查先天性上肢差异的遗传基础和表型模式.
- 突出基因检测和成像在诊断和管理中的作用.
主要方法:
- 对胚胎发育和遗传信号通路的审查.
- 对表型模式和相关遗传突变的分析.
- 讨论包括成像和遗传检测在内的诊断方法.
主要成果:
- 特定的上肢差异与近距离,辐射-腹和背腹腹轴的破坏有关.
- 关键的遗传关联包括TBX5,FANCA,GLI3,FGFR2,TP63以及PIK3CA,AKT1和RASA1.1的体质突变.
- 基因组测序澄清了这些条件的单一或马赛克起源.
结论:
- 通过遗传和成像分析精确的综合征鉴定是必不可少的.
- 早期诊断有助于协调护理,管理规划和多学科合作.
- 最终目标是优化受影响个体的功能和心理社会结果.
相关概念视频
Arteries of the Upper Limbs
2.5K
The subclavian artery transitions into the axillary artery as it exits the chest and enters the axillary region. This artery is critical for supplying blood to the shoulder area, including the head of the humerus, through the humeral circumflex arteries. As the vessel continues into the upper arm or brachium, it becomes the brachial artery. This artery plays a key role in vascularizing the brachial region and bifurcates at the elbow into several branches. These branches include the deep...
2.5K
Veins of Upper Limbs
4.4K
The human circulatory system, a marvel of biological engineering, is a complex network of vessels that transport blood throughout the body. Among these, the veins responsible for carrying blood from the upper limbs are divided into two categories: deep and superficial.
The deep venous system is primarily composed of the ulnar and radial veins. The ulnar vein, which drains the fingers through the superficial palmar venous arches, and the radial vein, which serves the palms via the deep palmar...
The deep venous system is primarily composed of the ulnar and radial veins. The ulnar vein, which drains the fingers through the superficial palmar venous arches, and the radial vein, which serves the palms via the deep palmar...
4.4K
Bones of the Upper Limb: Humerus
7.5K
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...
7.5K
Bones of the Upper Limb: Ulna
4.7K
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...
4.7K
Bones of the Upper Limb: Radius
5.1K
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...
5.1K
Electric Potential and Potential Difference
5.8K
Suppose a positive test charge moves away from a positive static charge, then the Coulomb force does positive work, and its electric potential energy decreases. The potential energy per unit charge is defined as the electric potential. The electric potential is independent of the test charge.
When a test charge moves from the initial to the final position, the electric potential difference between those positions is defined as the ratio of the change in the potential energy to the charge on the...
When a test charge moves from the initial to the final position, the electric potential difference between those positions is defined as the ratio of the change in the potential energy to the charge on the...
5.8K


