Abstracts

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E1356. Musculoskeletal Manifestations of Congenital and Developmental Syndromes: A Pictorial Review
Authors
  1. Brian Ng; University of Texas Health San Antonio
  2. Alireza Eajazi; University of Texas Health San Antonio
  3. Michael Davis; University of Texas Health San Antonio
  4. Iman Khodarahmi; NYU Langone Medical Center
  5. Shereef Elhalwagi; University of Texas Health San Antonio
  6. Angel Gomez-Cintron; University of Texas Health San Antonio
Background
The purpose of this educational exhibit is to present a multi-modality review of musculoskeletal findings in congenital, developmental, and other systemic syndromes.

Educational Goals / Teaching Points
-Briefly review the etiology and characteristic non-musculoskeletal findings of congenital, developmental, and other systemic syndromes -Review key musculoskeletal findings of these syndromes, mimickers, and differentiating criteria.

Key Anatomic/Physiologic Issues and Imaging Findings/Techniques
- Neurofibromatosis type 1 - Ollier’s disease - Gardner’s syndrome - Osteogenesis imperfecta - Down’s syndrome - Sarcoidosis - Klippel-Feil syndrome - Gaucher’s disease - Cerebral palsy

Conclusion
Congenital, developmental, and systemic syndromes typically present with a wide spectrum of radiological findings. Being familiar with the musculoskeletal findings of these syndromes helps the radiologist distinguish these syndromes from other etiologies on initial presentation, as well as providing a frame of reference for associated acute findings or progression of disease.