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Updated: Mar 27, 2026
A Novel Application of Musculoskeletal Ultrasound Imaging
Published on: September 17, 2013
Description of common musculoskeletal findings in Williams Syndrome and implications for therapies
L E Copes1, B R Pober1,2,3, C A Terilli4,5
1Department of Medical Sciences, Frank H. Netter MD School of Medicine, Quinnipiac University, Hamden, Connecticut.
Abstract:
Williams syndrome (WS), also referred to as Williams-Beuren syndrome (WBS), is a relatively rare genetic disorder affecting ∼1/10,000 persons. Since the disorder is caused by a micro-deletion of ∼1.5 Mb, it is not surprising that the manifestations of WS are extremely broad, involving most body systems. In this paper, we primarily focus on the musculoskeletal aspects of WS as these findings have not been the subject of a comprehensive review. We review the MSK features commonly seen in individuals with WS, along with related sensory and neurological issues interacting with and compounding underlying MSK abnormalities. We end by providing perspective, particularly from the vantage point of a physical therapist, on therapeutic interventions to address the most common MSK and related features seen in WS. Clin. Anat. 29:578-589, 2016. © 2016 Wiley Periodicals, Inc.
Insights
Williams syndrome (WS), a genetic disorder, presents a wide range of musculoskeletal issues. This review details common MSK findings and therapeutic interventions for individuals with WS.
Area of Science:
- Genetics
- Orthopedics
- Neurology
Background:
- Williams syndrome (WS), or Williams-Beuren syndrome (WBS), is a rare genetic disorder affecting approximately 1 in 10,000 individuals.
- Caused by a micro-deletion of ~1.5 Mb, WS manifests with broad systemic involvement, impacting most body systems.
- Musculoskeletal (MSK) aspects of WS have not been comprehensively reviewed, necessitating a focused examination.
Purpose of the Study:
- To provide a comprehensive review of the musculoskeletal features commonly observed in individuals with Williams syndrome.
- To explore the interplay between MSK abnormalities and related sensory and neurological issues in WS.
- To offer physical therapy-informed perspectives on therapeutic interventions for common MSK and associated challenges in WS.
Main Methods:
- Literature review focusing on musculoskeletal manifestations in Williams syndrome.
- Analysis of sensory and neurological factors contributing to MSK issues.
- Synthesis of physical therapy approaches for WS-related conditions.
Main Results:
- Detailed review of prevalent MSK findings in Williams syndrome.
- Identification of sensory and neurological factors that exacerbate MSK abnormalities.
- Discussion of therapeutic strategies for managing MSK and related symptoms.
Conclusions:
- Williams syndrome presents significant and varied musculoskeletal challenges.
- A multidisciplinary approach, including physical therapy, is crucial for managing WS.
- Further research and comprehensive reviews are needed to optimize care for individuals with WS.
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