Abstracts

RETURN TO ABSTRACT LISTING


E1835. Decrypting the Anatomy of Mythology: Review of Rare Musculoskeletal and Developmental Disorders
Authors
  1. Karen Man; Morristown Medical Center
  2. Lawrence Wang; Morristown Medical Center
  3. Sean Mendonca; Morristown Medical Center
  4. Isaac Daudelin; Morristown Medical Center; Rutgers New Jersey Medical School
Background
Reality and mythology/folklore often parallel each other, one drawing inspiration from the other throughout history. In medicine, for example, there are numerous disorders whose names and attributes draw likeness to mythological figures. Among these, there are several rare musculoskeletal and developmental conditions which can present with distinct features on radiological imaging. The radiologist may play a crucial role in the initial diagnosis of the disorder, monitoring of the patient’s development, and detection of anatomic findings which may have implications for prognosis or medical decision-making. It is important to be familiar with the radiological findings, as well as the social and historical context surrounding these disorders, in order to understand the beliefs and concerns of patients, their caregivers, and other providers involved in the patient’s health, development, and medical decisions.

Educational Goals / Teaching Points
The goals of this educational exhibit are to review key radiological findings for the diagnosis of several rare musculoskeletal and developmental disorders, recognize findings that may influence prognosis or susceptibility for future pathology in patients with these conditions, and gain a greater understanding of how radiological findings may impact medical decision making in the context of these rare disorders.

Key Anatomic/Physiologic Issues and Imaging Findings/Techniques
The educational exhibit will review imaging findings of various conditions associated with “dwarfism,” including achondroplasia (a rhizomelic dysplasia), hypochondroplasia, Leri-Weill dyschondrosteosis (a mesomelic dysplasia), and campomelic dysplasia. Conditions associated with “giant” stature discussed in this presentation include gigantism/acromegaly (excessive insulin-like growth factor 1 production) and Marfan syndrome. Other rare conditions that will be presented include fibrodysplasia ossificans progressiva, cherubism, and conjoined twins.

Conclusion
The radiologist plays a key role in diagnosis and monitoring of patient development in the rare disorders discussed in this presentation. It is important to be familiar with the radiological findings, as well as the social and historical context surrounding these disorders, in order to help the patients, their caregivers, and other health providers make informed medical decisions.