Ivory and dense epiphyses of the hand: Thiemann disease in three sisters

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...

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...

Bone formation, or ossification, begins around the sixth to seventh week of embryonic development. Most bones develop from a cartilaginous template through the process of endochondral ossification. Cartilage formation begins when clusters of mesenchymal cells differentiate into chondrocytes. These chondrocytes proliferate rapidly and secrete an extracellular matrix that becomes encased in a membrane called the perichondrium. The resulting cartilage model provides a template that resembles the...

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

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,...