American journal of medical genetics. Part A · 2020
Musculoskeletal abnormalities in a large international cohort of boys with 49,XXXXY.
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Tosi Laura, Mitchell Francie, Porter Grace F, Ruland Leigh, Gropman Andrea, Lasutschinkow Patricia C, Tran Selena L, Rajah Elmer N, Gillies Austin P, Hendrie Patricia, Peret Rick, Sadeghin Teresa, Samango-Sprouse Carole A
Аннотация
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.