Document Detail

Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY.
MedLine Citation:
PMID:  23359596     Owner:  NLM     Status:  MEDLINE    
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.
Courtney Sprouse; Laura Tosi; Emily Stapleton; Andrea L Gropman; Francie L Mitchell; Rick Peret; Teresa Sadeghin; Kathryn Haskell; Carole A Samango-Sprouse
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part C, Seminars in medical genetics     Volume:  163C     ISSN:  1552-4876     ISO Abbreviation:  Am J Med Genet C Semin Med Genet     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-01-29     Completed Date:  2013-05-20     Revised Date:  2013-09-16    
Medline Journal Info:
Nlm Unique ID:  101235745     Medline TA:  Am J Med Genet C Semin Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  44-9     Citation Subset:  IM    
Copyright Information:
Copyright © 2013 Wiley Periodicals, Inc.
Children's National Medical Center, Washington D.C., USA.
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MeSH Terms
Child, Preschool
Chromosomes, Human, X*
Cohort Studies
Klinefelter Syndrome / genetics
Middle Aged
Musculoskeletal Abnormalities / diagnosis*,  genetics*,  physiopathology
Young Adult

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