Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY

Authors

  • Courtney Sprouse,

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    • Courtney Sprouse graduated from the University of Pittsburgh with a B.S. in Neuroscience and a minor in Chemistry. She has been working as a clinical research assistant for Dr. Laura Tosi, Director of Bone Health at Children's National Medical Center, and Dr. Andrea Gropman, Chief of Neurogenetics and Neurodevelopmental Pediatrics at Children's National Medical Center.

  • Laura Tosi,

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    • Laura L. Tosi, M.D., is an Associate Professor of Othopedics and Pediatrics at the George Washington University of the Health Sciences and an attending Orthopedic Pediatric Surgeon at the Children's National Medical Center in Washington, D.C. She is the Director and Founder of the Bone Health Program at Children's National. Her clinical practice focuses on children with complex physical disabilities and problems with bone health and her research focuses on discovering genetic determinants of bone health. She has overseen the care of children with 49, XXXXY for nearly 10 years.

  • Emily Stapleton,

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    • Emily Stapleton graduated from the University of Virginia with a B.A. in Cognitive Science. She has been working as a Research Assistant for The Focus Foundation under Dr. Carole Samango-Sprouse for over a year.

  • Andrea L. Gropman,

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    • Andrea Gropman, M.D., is an Associate Professor of Neurology and Pediatrics at the George Washington University of the Health Sciences and an attending at the Children's National Medical Center in Washington, D.C. She is the Chief of the division of Neurogenetics and Neurodevelopmental Pediatrics. She is involved in clinical and molecular testing of patients with Neurogenetic conditions and her research is focused on neurological and neurodevelopmental phenotyping of genetic conditions. She also performs research using neuroimaging in children and adults with inborn errors of metabolism. She has overseen the care of children with 49, XXXXY for over 10 years.

  • Francie L. Mitchell,

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    • Francie L. Mitchell, P.T., M.S., P.C.S., is a Private Pediatric Physical Therapist specializing in working with children in home-based settings in the Northern Virginia area. Mitchell is a Neuro-Developmental Treatment (NDT) Certified Specialist in Pediatrics and an APTA Board Pediatric Certified Specialist (PCS). Mitchell received her Bachelor of Science in Physical Therapy and her Master of Science in Physical Therapy from Virginia Commonwealth University. She has provided consultation services to the Neurodevelopmental Diagnostic Center for Young Children on movement issues and therapeutic interventions for neurogenetic disorders and chromosomal abnormalities. In 2008, Mitchell received the VPTA Bev Cash Award as Virginia's most outstanding physical therapy clinician.

  • Rick Peret,

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    • Richard T. Peret, Jr. received his Bachelor of Science in Physical Therapy from the University of Maryland—Baltimore. He has been in practice for 28 years and provides care to children and adults with musculoskeletal abnormalities, neurological disorders and orthopedic impairments. He has been the acting president of APTA of Maryland for the past 10 years.

  • Teresa Sadeghin,

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    • Teresa Sadeghin has been working with young children since 1970. She is a program administrator at the Neurodevelopmental Diagnostic Center for Young Children. Mrs. Sadeghin coordinates studies, serves as a liaison to parents and organizes specialty programs.

  • Kathryn Haskell,

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    • Kathryn Haskell has more than 30 years of nursing experience with children who have complex developmental disabilities. She has worked in hospital, public school, public health and home-based settings and has developed numerous protocols, such as for childhood immunizations and medical procedures within the public school setting. Her expertise at managing detailed medical projects with large cohorts of disabled children is an essential component to the Foundation fulfilling its mission statement and increasing national awareness of dyslexia, developmental dyspraxia and sex chromosome disorders.

  • Carole A. Samango-Sprouse

    Corresponding author
    • 2222-E Defense Highway, Crofton, MD 21114.
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    • Carole Samango-Sprouse, Ed.D. is an Associate Clinical Professor of Pediatrics at the George Washington University School of Medicine and Health Sciences. She is actively involved in the clinical and developmental care of children with rare neurogenetic disorders. She is the CEO of the Neurodevelopmental Diagnostic Center providing care for children with uncommon neurogenetic disorders from all over the world. She writes extensively about the relationship between brain function, neurodevelopmental profile and neurogenetic disorder. She has provided care for children with 49, XXXXY for over 10 years.


  • How to Cite this Article: Sprouse C, Tosi L, Stapleton E, Gropman AL, Mitchell FL, Peret R, Sadeghin T, Haskell K, Samango-Sprouse CA. 2013. Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY. Am J Med Genet Part C Semin Med Genet 163C: 44–49.

Abstract

49, XXXXY is a rare aneuploidy and variant of Klinefelter syndrome, occurring in 1 per 80,000–100,000 live births. We present a cohort of 40 affected males, focusing on musculoskeletal problems. Subjects were participants in an annual 49er family support group meeting. Children were examined in a multidisciplinary clinic by a pediatric neurologist and geneticist, a pediatric orthopedist, a neurodevelopmentalist, and two physical therapists. The patient data were collected from this clinic from 2004 to 2012. All patients were required to have karyotypes that confirmed the presence of XXXXY. There was a high prevalence of musculoskeletal disorders, particularly hypotonia (34 patients [85%]), radioulnar synostosis (30 [75%]), pes planus (26 [65%]), asymmetric hip rotation (27 [67.5%]), and clinodactyly (24 [60%]). Other, less common lower-extremity disorders, included, 5 patients (12.5%) with unilateral club foot, 5 boys (12.5%) with pes cavus, 10 patients (25%) genu valgum and 2 children with genu varus (5%). To our knowledge, this is the first large cohort of boys with 49, XXXXY that focuses on musculoskeletal disorders. There was an increased incidence of hypotonia, clubfoot, avascular necrosis of the femoral head, radioulnar synostosis, and pes planus compared to the normative population. Boys with 49, XXXXY would benefit from multidisciplinary evaluations, particularly from pediatric orthopedists, physical therapists, neurologists, and geneticists for appropriate medical care. © 2013 Wiley Periodicals, Inc.

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