一个大型国际队列中患有49,XXXXY的男孩的肌肉骨骼异常情况
Musculoskeletal abnormalities in a large international cohort of boys with 49,XXXXY.
作者信息
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
机构信息
Children's National Hospital, Washington, District of Columbia, USA.
The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia, USA.
出版信息
Am J Med Genet A. 2021 Dec;185(12):3531-3540. doi: 10.1002/ajmg.a.61578. Epub 2020 Apr 3.
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.
49,XXXXY是最罕见的X和Y染色体变异，在活产男婴中的发病率为1/80000 - 1/100000，并且与众多肌肉骨骼异常有关。在10年的时间里，从一个国际队列中收集了患有49,XXXXY的男孩的数据。由一名儿科骨科医生、一名神经遗传学家、一名神经发育专家和两名物理治疗师组成的多学科团队对这些儿童进行了评估。观察到斜颈（32.4%）、腘绳肌紧张（42%）、桡尺骨融合（67.6%）、扁平足（65.2%）和其他足部异常（86.9%）的发生率增加。一些异常随着年龄增长而增加，特别是腘绳肌紧张、脊柱后凸和脊柱侧凸。为了向医疗服务提供者提供当前的医学信息，阐明该人群的骨科特征是必要的。这项研究进一步支持了对患有49,XXXXY的男孩进行综合多学科治疗的必要性。
Zotero 插件