A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case

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...

Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...

The tibia is the main weight-bearing bone of the lower leg. It is larger than the fibula with which it is paired. The tibia is also the second longest bone in the body and is located right below the skin. The proximal end of the tibia forms the medial and the lateral condyle, which articulates with the condyles of the femur to form the knee joint. Between the articulating surfaces is the irregular elevated area known as the intercondylar eminence that serves as the inferior attachment point for...

Overview

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,...

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...