Musculoskeletal abnormalities in a large international cohort of boys with 49, XXXXY
| Autor: | Carole A. Samango-Sprouse, Austin P. Gillies, Andrea L. Gropman, Patricia Hendrie, Grace F. Porter, Francie L. Mitchell, Laura L. Tosi, Patricia C. Lasutschinkow, Selena L. Tran, Leigh Ruland, Elmer N. Rajah, Rick Peret, Teresa Sadeghin |
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| Rok vydání: | 2020 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Adolescent Population Kyphosis Ulna Scoliosis Klinefelter Syndrome Rare Diseases Genetics medicine Humans Child education Torticollis Genetics (clinical) Chromosomes Human X education.field_of_study Chromosomes Human Y business.industry Incidence (epidemiology) Hamstring Tendons Infant medicine.disease Flatfoot Musculoskeletal Abnormalities Radius Synostosis Child Preschool Cohort Orthopedic surgery business Hamstring |
| Zdroj: | American Journal of Medical Genetics Part A. 185:3531-3540 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.61578 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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