Introdução
O que você precisa saber de cara
A síndrome de Marfan (SM) é um distúrbio genético multissistêmico que afeta o tecido conjuntivo. As pessoas com a condição são frequentemente altas e magras, com braços, pernas, dedos das mãos e dos pés longos. Elas também apresentam, tipicamente, articulações excepcionalmente flexíveis e colunas vertebrais anormalmente curvadas. As complicações mais graves envolvem o coração e a aorta, com risco aumentado de prolapso da válvula mitral e aneurisma da aorta. Os pulmões, olhos, ossos e o revestimento da medula espinhal também são comumente afetados. A gravidade dos sintomas é variável.
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Luxação congênita do cotovelo, unilateral
Centros de Referência SUS
24 centros habilitados pelo SUS para Luxação congênita do cotovelo, unilateral
Centros para Luxação congênita do cotovelo, unilateral
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
A Rare Case of Bilateral Congenital Radial Head Dislocation: A Case Report.
Congenital radial head dislocation (CRHD) is a rare deformity of the upper extremity that may be sporadic or genetic in origin. While most of the cases are unilateral and asymptomatic, bilateral involvement is very rare. This condition may be related to genetic syndromes such as Ehlers-Danlos and Turner syndromes, or it may appear as an isolated anomaly. The current pathology is the deterioration of the anatomical relationship between the humerus and the head of the radius due to a developmental anomaly. In our study, we present a 71-year-old male patient who experienced elbow pain during daily activities for about 2 years. Our patient has no history of trauma. He has been able to move functionally independently throughout his life. Physical examination revealed flexion, supination, and pronation limitations in the range of motion of the elbow joint. Plain radiograph (X-ray) and three-dimensional-computed tomography imaging revealed bilateral anterior radius head dislocation, capitellum hypoplasia, ovoid radial head, long radial neck, and shallow trochlear incisura. This case shows that bilateral CRHD, which is extremely rare, can be managed with minimal symptoms and can be successfully managed with conservative treatment. Reporting similar cases will contribute to a better understanding of the natural history of this rare condition and the most appropriate treatment strategies.
A novel surgical treatment of type 3 congenital elbow luxation in a dog.
Congenital luxation of the ulnar and radius is a rare orthopaedic condition in the dog. This case report describes a novel surgical treatment for congenital elbow luxation in a medium-breed dog. A 6-week-old Kelpie presented for left forelimb lameness and deformity. Radiographs and computed tomography (CT) confirmed the diagnosis of unilateral ulnar and radius luxation. The surgical repair involved open reduction followed by fixation with an extraarticular pin and a transarticular external fixator. The outcome of surgery was improved leg function and weight-bearing, however, reluxation of the radial head was diagnosed 7 weeks following surgery. This technique may offer an alternative surgical option to improve clinical signs, as well as insight into improving the management of this condition.
Congenital unilateral proximal radioulnar synostosis: A surgical case report.
Congenital proximal radioulnar synostosis is a rare genetic malformation of the upper limb. This deformity, which is found mainly in preschool-aged children, has no recognized diagnosis and treatment. Current diagnostic methods cannot effectively assess both bone structure and soft tissue abnormalities, and most surgical treatments introduce complications and do not prevent recurrence. More work is needed; therefore, to address the diagnosis and treatment of this disease. An 8-year-old male patient was hospitalized in our department. He reported deformity and limited motion in his right elbow for the past 2 years. He denied a traumatic or family history of bony malformation. The chief complaint at the time of the hospitalization was the limitation in forearm rotation. Digital radiography of the right elbow joint showed proximal radioulnar synostosis and a valgus deformity. A 3-dimensional computed tomography scan further showed proximal ulna and radius dysplasia as well as anterior dislocation of the radius head. The patient was diagnosed with congenital right proximal radioulnar synostosis. Surgical procedures included arthrolysis of the right proximal radioulnar joint, osteotomy of the proximal radius, internal fixation with Kirschner wires, and reconstruction of the annular ligament. The right elbow was immobilized in plaster in a flexion and supination position for 2 weeks. Recurrence of the right proximal radioulnar synostosis was observed during the 6-month follow-up, but the rotation function of the patient's forearm was significantly improved. The findings from this case suggest that we should carefully monitor all patients younger than 6 years old who report long-term issues with forearm rotation. This case also highlights the need to assess soft tissue and epiphysis abnormalities in addition to bone assessments via digital radiography and 3-dimensional computed tomography. We suggest that surgery should not be performed until the proximal radius epiphysis has closed. Not all cases require surgical treatment, but when surgery is needed, a suitable method should be selected according to the individual needs of the patient. Any surgery performed should treat both the bony malformations and soft tissue abnormalities to maximize the therapeutic effect and reduce complications during and after surgery.
Treatment of Capitellum Fracture with Chronic Radial Head Dislocation.
We encountered a case of capitellum fracture with radial head dislocation in which it was challenging to diagnose whether the dislocation was coincident with the fracture or this was chronic dislocation that presented before the fracture. Chronic radial head dislocation may be congenital or could occur in patients with untreated post-traumatic dislocation, although diagnosis is particularly challenging if the radial head dislocation is unilateral. Classical capitellum fracture involves anterosuperior bone fragment dislocation. However, in the present case, the bone fragment was present beneath the radial head, which suggests chronic radial head dislocation. When the bone fragment appears in a different position than usual, every effort should be made to understand the pathophysiology by reviewing the mechanism of onset, disease history, and imaging.
Bilateral hypermobility of ulnar nerves at the elbow joint with unilateral left ulnar neuropathy in a computer user: A case study.
Occupational ulnar neuropathy at the elbow joint develops in the course of long term direct pressure on the nerve and a persistently flexed elbow posture, but first of all, it is strongly associated with "holding a tool in a certain position" repetitively. Therefore, computer work only in exceptional cases can be considered as a risk factor for the neuropathy. Ulnar hypermobility at the elbow might be one of the risk factors in the development of occupational ulnar neuropathy; however, this issue still remains disputable. As this condition is mostly of congenital origin, an additional factor, such as a direct acute or chronic professional or non-professional trauma, is needed for clinical manifestations. We describe a patient - a computer user with a right ulnar nerve complete dislocation and left ulnar nerve hypermobility, unaware of her anomaly until symptoms of left ulnar neuropathy occurred in the course of job exposure. The patient was exposed to repetitive long lasting pressure of the left elbow and forearm on the hard support on the cupboard and desk because of a non-ergonomically designed workplace. The additional coexistent congenital abnormal displacement of the ulnar nerve from the postcondylar groove during flexion at the elbow increased the possibility of its mechanical injury. We recognized left ulnar neuropathy at the ulnar groove as an occupational disease. An early and accurate diagnosis of any form of hypermobility of ulnar nerve, informing patients about it, prevention of an ulnar nerve injury as well as compliance with ergonomic rules are essential to avoid development of occupational and non-occupational neuropathy.
Publicações recentes
Congenital Elbow Dislocation: A Case Report.
[Congenital radial head dislocation: report of two cases].
Surgical management of congenital elbow instability: a case report.
Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.
📚 EuropePMCmostrando 5
A Rare Case of Bilateral Congenital Radial Head Dislocation: A Case Report.
Journal of orthopaedic case reportsA novel surgical treatment of type 3 congenital elbow luxation in a dog.
Australian veterinary journalCongenital unilateral proximal radioulnar synostosis: A surgical case report.
MedicineTreatment of Capitellum Fracture with Chronic Radial Head Dislocation.
The journal of hand surgery Asian-Pacific volumeBilateral hypermobility of ulnar nerves at the elbow joint with unilateral left ulnar neuropathy in a computer user: A case study.
International journal of occupational medicine and environmental healthAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Luxação congênita do cotovelo, unilateral.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Luxação congênita do cotovelo, unilateral
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Ainda não achamos doenças com sintomas parecidos o suficiente.
Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- A Rare Case of Bilateral Congenital Radial Head Dislocation: A Case Report.
- A novel surgical treatment of type 3 congenital elbow luxation in a dog.
- Congenital unilateral proximal radioulnar synostosis: A surgical case report.
- Treatment of Capitellum Fracture with Chronic Radial Head Dislocation.
- Bilateral hypermobility of ulnar nerves at the elbow joint with unilateral left ulnar neuropathy in a computer user: A case study.International journal of occupational medicine and environmental health· 2016· PMID 26988889mais citado
- Congenital Elbow Dislocation: A Case Report.
- [Congenital radial head dislocation: report of two cases].
- Surgical management of congenital elbow instability: a case report.
- Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:295225(Orphanet)
- MONDO:0017558(MONDO)
- GARD:21223(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55787183(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
