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Related Concept Videos

Arteries of the Upper Limbs01:12

Arteries of the Upper Limbs

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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...
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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.
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Bones of the Upper Limb: Humerus01:19

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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...
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Bones of the Upper Limb: Ulna01:15

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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...
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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.
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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.
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Genetic Syndromes Associated With Congenital Upper Limb Differences.

Adham Elsherbini1, Jonah Perlmutter1, Adam Mosa2

  • 1Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.

The Journal of Hand Surgery
|February 14, 2026
PubMed
Summary

Congenital upper limb differences are linked to genetic mutations affecting embryonic development. Early identification through imaging and genetic testing is crucial for coordinated care and improved outcomes.

Keywords:
Brachydactylyectrodactylygenetic syndromesmacrodactylypolydactylyradial longitudinal deficiencysyndactyly

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Area of Science:

  • Developmental Biology
  • Genetics
  • Orthopedics

Background:

  • Congenital upper limb differences affect 20-30 per 10,000 live births, often requiring surgery.
  • These differences can be isolated or part of systemic syndromes, stemming from disruptions in embryonic signaling pathways.

Purpose of the Study:

  • To review the genetic basis and phenotypic patterns of congenital upper limb differences.
  • To highlight the role of genetic testing and imaging in diagnosis and management.

Main Methods:

  • Review of embryological development and genetic signaling pathways.
  • Analysis of phenotypic patterns and associated genetic mutations.
  • Discussion of diagnostic approaches including imaging and genetic testing.

Main Results:

  • Specific upper limb differences correlate with disruptions in proximal-distal, radial-ulnar, and dorsal-ventral axes.
  • Key genetic associations include TBX5, FANCA, GLI3, FGFR2, TP63, and somatic mutations in PIK3CA, AKT1, and RASA1.
  • Genomic sequencing clarifies monogenic or mosaic origins of these conditions.

Conclusions:

  • Accurate syndromic identification through genetic and imaging analysis is essential.
  • Early diagnosis facilitates coordinated care, management planning, and multidisciplinary collaboration.
  • Optimizing functional and psychosocial outcomes for affected individuals is the ultimate goal.