1. Musculoskeletal abnormalities in a large international cohort of boys with 49,XXXXY.
- Author
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Tosi L, Mitchell F, Porter GF, Ruland L, Gropman A, Lasutschinkow PC, Tran SL, Rajah EN, Gillies AP, Hendrie P, Peret R, Sadeghin T, and Samango-Sprouse CA
- Subjects
- Adolescent, Child, Child, Preschool, Chromosomes, Human, Y, Flatfoot complications, Flatfoot diagnosis, Flatfoot genetics, Flatfoot physiopathology, Hamstring Tendons diagnostic imaging, Hamstring Tendons physiopathology, Humans, Infant, Klinefelter Syndrome complications, Klinefelter Syndrome genetics, Klinefelter Syndrome physiopathology, Kyphosis complications, Kyphosis diagnosis, Kyphosis genetics, Kyphosis physiopathology, Male, Musculoskeletal Abnormalities complications, Musculoskeletal Abnormalities genetics, Musculoskeletal Abnormalities physiopathology, Radius abnormalities, Radius physiopathology, Rare Diseases complications, Rare Diseases genetics, Rare Diseases physiopathology, Scoliosis complications, Scoliosis diagnosis, Scoliosis genetics, Scoliosis physiopathology, Synostosis complications, Synostosis diagnosis, Synostosis genetics, Synostosis physiopathology, Torticollis complications, Torticollis diagnosis, Torticollis genetics, Torticollis physiopathology, Ulna abnormalities, Ulna physiopathology, Chromosomes, Human, X genetics, Klinefelter Syndrome diagnosis, Musculoskeletal Abnormalities diagnosis, Rare Diseases diagnosis
- Abstract
49,XXXXY is the rarest X and Y chromosomal variation, with an incidence of 1 in 80,000-100,000 live male births and has been associated with numerous musculoskeletal abnormalities. Data was collected from an international cohort of boys with 49,XXXXY over 10 years. Children were evaluated by a multidisciplinary team consisting of a pediatric orthopedist, a neurogeneticist, a neurodevelopmentalist, and two physical therapists. Increased rates of torticollis (32.4%), hamstring tightness (42%), radioulnar synostosis (67.6%), pes planus (65.2%), and other foot abnormalities (86.9%) were observed. Several anomalies increased with age, specifically hamstring tightness, kyphosis, and scoliosis. The elucidation of the orthopedic profile of this population is necessary in order to provide healthcare providers with current medical information. This research further supports the necessity for the comprehensive multidisciplinary treatment of boys with 49,XXXXY., (© 2020 Wiley Periodicals, Inc.)
- Published
- 2021
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