RESUMO
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.
Assuntos
Cromossomos Humanos X/genética , Síndrome de Klinefelter/diagnóstico , Anormalidades Musculoesqueléticas/diagnóstico , Doenças Raras/diagnóstico , Adolescente , Criança , Pré-Escolar , Cromossomos Humanos Y , Pé Chato/complicações , Pé Chato/diagnóstico , Pé Chato/genética , Pé Chato/fisiopatologia , Tendões dos Músculos Isquiotibiais/diagnóstico por imagem , Tendões dos Músculos Isquiotibiais/fisiopatologia , Humanos , Lactente , Síndrome de Klinefelter/complicações , Síndrome de Klinefelter/genética , Síndrome de Klinefelter/fisiopatologia , Cifose/complicações , Cifose/diagnóstico , Cifose/genética , Cifose/fisiopatologia , Masculino , Anormalidades Musculoesqueléticas/complicações , Anormalidades Musculoesqueléticas/genética , Anormalidades Musculoesqueléticas/fisiopatologia , Rádio (Anatomia)/anormalidades , Rádio (Anatomia)/fisiopatologia , Doenças Raras/complicações , Doenças Raras/genética , Doenças Raras/fisiopatologia , Escoliose/complicações , Escoliose/diagnóstico , Escoliose/genética , Escoliose/fisiopatologia , Sinostose/complicações , Sinostose/diagnóstico , Sinostose/genética , Sinostose/fisiopatologia , Torcicolo/complicações , Torcicolo/diagnóstico , Torcicolo/genética , Torcicolo/fisiopatologia , Ulna/anormalidades , Ulna/fisiopatologiaRESUMO
PURPOSE OF REVIEW: Rare bone diseases constitute ~ 5% of all known rare diseases and can require complex, multidisciplinary care. Advancing access to current medical knowledge is an important strategy for improving care for rare bone diseases throughout the world. To support this goal, the Rare Bone Disease Alliance launched the Rare Bone Disease TeleECHO in 2019. RECENT FINDINGS: The Rare Bone Disease TeleECHO is a monthly video teleconference that fosters a collegial community of practice and opportunities for active learning through interactive case-based learning. TeleECHO relies on a hub-and-spoke model, where medical professionals at the "hub" provide support and expertise for other healthcare providers, or the "spokes". Evidence of the global reach of the program as well as qualitative feedback from registrants supports the need for rare bone disease education and the value of the TeleECHO model. The Rare Bone Disease TeleECHO helps meet the challenge of disseminating rapidly expanding rare bone disease knowledge by leveraging telehealth.