Expansile bone lesions in a three-generation family

M B Dinulos1, D L Sternen, C B Graham

  • 1Department of Pediatrics, University of Washington School of Medicine and Children's Hospital and Regional Medical Center, Seattle 98105, USA.

Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

Overview
Pleiotropy01:33

Pleiotropy

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,...
Bone Markings01:26

Bone Markings

Bones have various surface features that help form joints and attach to other soft tissues. Depending on the function, bone markings are categorized into articulating projections, processes for attachment, depressions, and openings.
Articulating Projections
Articulating projections are found where two bones meet to form a joint. These structures are usually found at the ends of bones. The largest articulation is a rounded projection called the head, supported by a narrow neck at the ends of...
Bone Disorders01:29

Bone Disorders

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...