title: Description of common musculoskeletal findings in Williams Syndrome and implications for therapies.
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.
authors.affiliation: Department of Medical Sciences, Frank H. Netter MD School of Medicine, Quinnipiac University, Hamden, Connecticut.
authors.forename: L E
authors.initials: LE
authors.lastname: Copes
authors.affiliation: Department of Medical Sciences, Frank H. Netter MD School of Medicine, Quinnipiac University, Hamden, Connecticut.|Department of Genetics, Massachusetts General Hospital, Boston, Massachusetts.|Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
authors.forename: B R
authors.initials: BR
authors.lastname: Pober
authors.affiliation: Department of Pediatrics, Albert Einstein College of Medicine, Bronx, New York.|Rose F. Kennedy Children's Evaluation and Rehabilitation Center at Montefiore, Bronx, New York.
authors.forename: C A
authors.initials: CA
authors.lastname: Terilli
mesh_terms: D006801:Humans; D009139:Musculoskeletal Abnormalities / Q000209:etiology; D026741:Physical Therapy Modalities; D018980:Williams Syndrome / Q000150:complications / Q000473:pathology* / Q000628:therapy
keywords: Williams Syndrome; musculoskeletal; physical therapy