Sotos syndrome: two cases with severe scoliosis

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

The vertebral column or spine is a flexible column that supports the head, neck, and body and  allows for their movements. It also protects the spinal cord.
Regions of the Vertebral Column
In an adult, the spine is subdivided into five regions: the cervical, the thoracic, the lumbar, the sacral, and the coccygeal region. The spine initially develops as a series of 33 vertebrae; after 20 years of age, the nine bones in the sacral region, five sacral, and four coccygeal bones fuse to form the...

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...

Unsymmetrical bending occurs when the bending moment applied to a structural member does not align with its principal axis. This misalignment leads to complex stress distributions and deflection patterns that differ from symmetrical bending, which are essential for designing structures to withstand different loading conditions.
Consider a member subjected to equal and opposite forces that are applied along a line that does not coincide with the member's neutral axis. In unsymmetrical bending,...

Early Ischemia and Ionic ImbalanceWithin minutes of spinal cord injury, a secondary cascade begins, progressing over hours to weeks. Vascular damage reduces blood flow, causing ischemia and mitochondrial dysfunction. ATP depletion leads to ion pump failure, membrane depolarization, sodium influx, potassium efflux, and water accumulation, resulting in cellular swelling. Increased intracellular calcium further disrupts mitochondria and accelerates cellular injury.Excitotoxicity and Neuronal...