Laura L Tosi1, Julie C Sapp, Elizabeth S Allen, Regis J O'Keefe, Leslie G Biesecker. 1. Division of Orthopaedic Surgery and Sports Medicine, Children's National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010 USA ; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD USA.
Abstract
PURPOSE: A multidisciplinary workshop was convened at the National Institutes of Health (NIH) to discuss the management of the orthopedic and other complications of Proteus syndrome (PS), a progressive, disproportionate overgrowth disorder. While PS poses many complex challenges, the focus of the workshop was the management of the asymmetric and disorganized skeletal overgrowth that characterizes this multisystem disorder. METHODS: Workshop participants developed recommendations for clinical research and patient management and surveillance to maximize the benefits and reduce the risks of surgical and other interventions. RESULTS: Recommendations for clinical care and management included assessments of skeletal overgrowth and its progression with modalities such as X-ray, magnetic resonance imaging (MRI), dual-energy X-ray absorptiometry, and computerized tomography (CT) imaging. The recommendations also cover the assessment of non-orthopedic complications of PS that significantly impact surgical risk, such as pulmonary embolism and lung bullae. Surgical considerations in PS include assessment of the contribution of contractures to deformities and prophylactic soft-tissue release, aggressive and early use of epiphysiodesis and epiphysiostasis, amputation, and spinal bracing. CONCLUSION: Decisions on the timing of orthopedic procedures in children with PS are challenging because they entail balancing the risks of intervention in this high-risk and complex population against the increasing morbidity that patients experience with progressive bony overgrowth. If surgery is delayed too long, the condition may become inoperable. We hope that these recommendations will help clinicians gather appropriate data and assist their patients in making timely treatment decisions.
PURPOSE: A multidisciplinary workshop was convened at the National Institutes of Health (NIH) to discuss the management of the orthopedic and other complications of Proteus syndrome (PS), a progressive, disproportionate overgrowth disorder. While PS poses many complex challenges, the focus of the workshop was the management of the asymmetric and disorganized skeletal overgrowth that characterizes this multisystem disorder. METHODS: Workshop participants developed recommendations for clinical research and patient management and surveillance to maximize the benefits and reduce the risks of surgical and other interventions. RESULTS: Recommendations for clinical care and management included assessments of skeletal overgrowth and its progression with modalities such as X-ray, magnetic resonance imaging (MRI), dual-energy X-ray absorptiometry, and computerized tomography (CT) imaging. The recommendations also cover the assessment of non-orthopedic complications of PS that significantly impact surgical risk, such as pulmonary embolism and lung bullae. Surgical considerations in PS include assessment of the contribution of contractures to deformities and prophylactic soft-tissue release, aggressive and early use of epiphysiodesis and epiphysiostasis, amputation, and spinal bracing. CONCLUSION: Decisions on the timing of orthopedic procedures in children with PS are challenging because they entail balancing the risks of intervention in this high-risk and complex population against the increasing morbidity that patients experience with progressive bony overgrowth. If surgery is delayed too long, the condition may become inoperable. We hope that these recommendations will help clinicians gather appropriate data and assist their patients in making timely treatment decisions.
Authors: L G Biesecker; K F Peters; T N Darling; P Choyke; S Hill; N Schimke; M Cunningham; P Meltzer; M M Cohen Journal: Am J Med Genet Date: 1998-10-02
Authors: Julie C Sapp; Joyce T Turner; Jiddeke M van de Kamp; Fleur S van Dijk; R Brian Lowry; Leslie G Biesecker Journal: Am J Med Genet A Date: 2007-12-15 Impact factor: 2.802
Authors: Kim M Keppler-Noreuil; Victoria E R Parker; Thomas N Darling; Julian A Martinez-Agosto Journal: Am J Med Genet C Semin Med Genet Date: 2016-11-18 Impact factor: 3.908
Authors: Marjorie J Lindhurst; Victoria E R Parker; Felicity Payne; Julie C Sapp; Simon Rudge; Julie Harris; Alison M Witkowski; Qifeng Zhang; Matthijs P Groeneveld; Carol E Scott; Allan Daly; Susan M Huson; Laura L Tosi; Michael L Cunningham; Thomas N Darling; Joseph Geer; Zoran Gucev; V Reid Sutton; Christos Tziotzios; Adrian K Dixon; Timothy Helliwell; Stephen O'Rahilly; David B Savage; Michael J O Wakelam; Inês Barroso; Leslie G Biesecker; Robert K Semple Journal: Nat Genet Date: 2012-06-24 Impact factor: 38.330
Authors: Kim M Keppler-Noreuil; Julie C Sapp; Marjorie J Lindhurst; Victoria E R Parker; Cathy Blumhorst; Thomas Darling; Laura L Tosi; Susan M Huson; Richard W Whitehouse; Eveliina Jakkula; Ian Grant; Meena Balasubramanian; Kate E Chandler; Jamie L Fraser; Zoran Gucev; Yanick J Crow; Leslie Manace Brennan; Robin Clark; Elizabeth A Sellars; Loren D M Pena; Vidya Krishnamurty; Andrew Shuen; Nancy Braverman; Michael L Cunningham; V Reid Sutton; Velibor Tasic; John M Graham; Joseph Geer; Alex Henderson; Robert K Semple; Leslie G Biesecker Journal: Am J Med Genet A Date: 2014-04-29 Impact factor: 2.802
Authors: Kim M Keppler-Noreuil; Jay Lozier; Neal Oden; Anjali Taneja; Jasmine Burton-Akright; Julie C Sapp; Leslie G Biesecker Journal: Am J Med Genet C Semin Med Genet Date: 2019-09-06 Impact factor: 3.359