Short stature, ulnar deviation of hands with absent carpals and joint contractures: a new syndrome

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 of the...

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 short...

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

The upper and lower limb initially develops as a small bulge called a limb bud, which appears on the lateral side of the early embryo. The upper limb bud appears near the end of the fourth week of development, with the lower limb bud appearing shortly after.
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...

Nerve plexuses are networks of interlacing nerves that serve as communication hubs to distribute and organize nerve action across various body regions. The nerve plexuses are organized into the cervical plexus located in the neck region, brachial plexus in the shoulder area, lumbar plexus found in the lower back, sacral plexus situated in the pelvis, and coccygeal plexus located in the coccygeal region.
The Cervical Plexus
The cervical plexus, formed by the anterior rami of the first four...

The muscles of the forearm that move the wrist, hand, and digits are numerous and diverse. They can be classified into two groups based on their location and function — the anterior and posterior compartment muscles.
Anterior Compartment
The anterior compartment muscles originate from the humerus. They primarily function as flexors and are also known as flexor muscles. They typically insert on the carpals, metacarpals, and phalanges. The superficial layer includes the flexor carpi radialis,...