Raras
Buscar doenças, sintomas, genes...
Síndrome de anomalias distais dos membros-micrognatia
ORPHA:1307CID-10 · Q92.3CID-11 · LD41.90OMIM 246560DOENÇA RARA

A síndrome de deficiências distais dos membros-micrognatia é caracterizada pela combinação de deficiências simétricas graves de redução distal dos membros que afetam todos os quatro membros (oligodactilia), microretrognatia e microstomia com ou sem fenda palatina.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome de deficiências distais dos membros-micrognatia é caracterizada pela combinação de deficiências simétricas graves de redução distal dos membros que afetam todos os quatro membros (oligodactilia), microretrognatia e microstomia com ou sem fenda palatina.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
6
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: SP, PR, SC, RS, ES +10CID-10: Q92.3
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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

Partes do corpo afetadas

😀
Face
5 sintomas
🦴
Ossos e articulações
4 sintomas
👂
Ouvidos
3 sintomas
🫘
Rins
3 sintomas
🧠
Neurológico
3 sintomas
👁️
Olhos
2 sintomas

+ 17 sintomas em outras categorias

Características mais comuns

90%prev.
Anormalidade da segregação cromossômica
Muito frequente (99-80%)
90%prev.
Orelhas com rotação posterior
Muito frequente (99-80%)
90%prev.
Morfologia metacarpal anormal
Muito frequente (99-80%)
90%prev.
Oligodactilia
Muito frequente (99-80%)
90%prev.
Micro-retrognatia
Muito frequente (99-80%)
90%prev.
Anormalidade dos tornozelos
Muito frequente (99-80%)
39sintomas
Muito frequente (6)
Frequente (12)
Ocasional (12)
Sem dados (9)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 39 características clínicas mais associadas, ordenadas por frequência.

Anormalidade da segregação cromossômicaAbnormality of chromosome segregation
Muito frequente (99-80%)90%
Orelhas com rotação posteriorPosteriorly rotated ears
Muito frequente (99-80%)90%
Morfologia metacarpal anormalAbnormal metacarpal morphology
Muito frequente (99-80%)90%
OligodactiliaOligodactyly
Muito frequente (99-80%)90%
Micro-retrognatiaMicroretrognathia
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2025144 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

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

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de anomalias distais dos membros-micrognatia

Centros de Referência SUS

24 centros habilitados pelo SUS para Síndrome de anomalias distais dos membros-micrognatia

Centros para Síndrome de anomalias distais dos membros-micrognatia

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Refractory Rickets: Evaluation and Management.

Indian journal of pediatrics2026 Feb 26

Refractory rickets refers to a set of diseases which are identified by a lack of response to therapeutic doses used to treat vitamin D deficiency. A child presenting with refractory rickets can pose a diagnostic dilemma as many kidney diseases have been identified as possible causes. Inherited (e.g., distal renal tubular acidosis, Fanconi syndrome, hypophosphatemic rickets, vitamin D-dependent rickets, nephronophthisis) and acquired tubular disorders [e.g., posterior urethral valves, reflux nephropathy leading to chronic kidney disease (CKD)-mineral bone disorder] may be complicated by refractory rickets. Rarely, chronic liver disease and malabsorption states can also result in refractory rickets. Hypophosphatemia is a feature of both calcipenic as well as phosphopenic rickets. Common features accompanying refractory rickets include polyuria, polydipsia, hypokalemic paralysis, fractures, limb deformities, failure-to-thrive, short-stature, tetany and nephrocalcinosis. A careful history, examination and biochemical evaluation is required to delineate the underlying cause. Using a rational algorithmic approach, it is possible to determine the correct diagnosis in these cases. Consequent upon easy availability of next generation sequencing (NGS), the accurate diagnoses can be promptly made aiding in targeted therapy. Children with refractory rickets need regular follow-up to optimise the biochemical abnormalities, monitor growth and retard the progression of CKD. This article describes the evaluation of a child with refractory rickets using an algorithmic approach, underscores the importance of the necessary blood and urine biochemical tests as well as NGS for identification of the precise etiology of refractory-rickets; and discusses the pathophysiology and management of the most important causes of refractory-rickets. Traumatic musculoskeletal injuries represent a major global and national public health burden and are a leading cause of emergency department utilization. Results from large epidemiologic studies from the United States and worldwide demonstrate that traumatic injuries account for tens of millions of emergency department visits annually, with musculoskeletal trauma contributing substantially to disability, cost, and loss of function across age groups. Within this broad category, joint injuries are among the most frequently encountered patterns and are a core focus of both emergency medical services (EMS) and hospital-based trauma systems. In the prehospital environment, joint injuries are often challenging to characterize and appropriately stabilize because of limited diagnostic resources, variable patient factors, and the presence of distracting injuries. Nevertheless, early recognition and structured assessment of suspected joint injuries are essential to guide immobilization decisions and prevent secondary harm during transport. These injuries arise from a wide range of mechanisms, including high-energy motor vehicle collisions, pedestrian and motorcycle crashes, sports trauma, and falls from height, and even seemingly minor events such as ground-level falls or low-energy torsional injuries in susceptible individuals. These diverse mechanisms produce patterns ranging from simple sprains to unstable complex fracture-dislocations and periarticular fractures. Because of this spectrum of severity, all suspected joint and extremity injuries in the field should be managed using a standardized strategy that prioritizes hemorrhage control, pain management, anatomic realignment, and immobilization spanning the joints above and below the injury. Timely and well-performed immobilization in the prehospital setting reduces pain, limits further skeletal and soft-tissue damage, decreases blood loss, and protects adjacent neurovascular structures. This may lower the risk of complications such as compartment syndrome and the need for more complex operative reconstruction. Observational data from multiple trauma systems have shown that immobilization is frequently performed suboptimally, with errors in splint selection, application, and documentation of distal perfusion and neurologic status. In a series, fewer than 10% of patients with limb injuries received immobilization that met predefined quality criteria, and overall immobilization quality was strongly associated with EMS personnel's education level. These findings support the need for targeted education on injury assessment and immobilization techniques for EMS professionals and the broader interprofessional trauma team.

#2

Complex revision elbow arthroplasty for periprosthetic Holstein-Lewis fracture with delayed onset radial nerve entrapment after skydiving injury.

BMJ case reports2026 Jan 16

Holstein-Lewis fractures are spiral fractures in the distal third of the humeral shaft, which carry increased risk of radial nerve palsy compared with other humeral shaft fractures; these fractures are usually managed conservatively. However, there is no case in the existing literature that describes the management of Holstein-Lewis fractures with radial nerve entrapment in a patient with a history of total elbow arthroplasty (TEA). Here, we present the first documented case of a complex revision elbow arthroplasty for Holstein-Lewis fracture with delayed onset radial nerve entrapment after a skydiving injury. In patients with Holstein-Lewis fractures who underwent previous TEA, we identify the increased risk of nerve entrapment due to loose metallosis surrounding the fracture site and discuss the operative challenges that these rarer cases pose. We also necessitate the early monitoring of suspected neurapraxia in these patients and highlight the prognostic benefits of performing timely nerve exploration and operative intervention.

#3

Genome-wide meta-analysis identifies genetic risk loci for mono- and polyneuropathies in 983 477 individuals.

Human molecular genetics2026 Feb 23

Peripheral neuropathies are common neurological disorders affecting sensory, autonomic, and motor nerves, with an estimated prevalence exceeding 2% in the general population. Typical symptoms include numbness and distal limb muscle weakness, resulting from somatosensory nerve damage. Here, we investigate the genetic architecture of mono- and polyneuropathies and their relationships with comorbid traits using data from FinnGen and the UK Biobank. Our genome-wide association study (GWAS) and meta-analysis identified 48 genome-wide significant (P < 5 × 10-8) independent loci and 66 fine-mapped credible sets. These included associations with genes involved in neurotransmitter signaling (HTR3A), immune function (HLA-DQB1, BCL11A), extracellular matrix remodeling (COL11A1, ADAMTS17, LOXL4), axon guidance and neural development (DCC, ETV1, NEGR1), and carpal tunnel syndrome (DIRC3). Public variant association data across cohorts, genetic correlation, and Mendelian randomization analyses supported shared genetic links of neuropathies with sleep problems, chronic pain, and psychiatric disorders. Together, our results highlight a strong polygenic basis for neuropathies and further confirm their genetic comorbid relationships with sleep, pain, psychiatric, and autoimmune traits.

#4

When Foot Drop Tells a Bigger Story: POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Plasma Cell Disorder, and Skin Changes) Syndrome Revealed by Femoral Plasmacytoma.

Cureus2026 Feb

POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes) syndrome is a rare multisystem disorder caused by a monoclonal plasma cell dyscrasia, often presenting with a constellation of neuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin changes. Its initial manifestations frequently overlap with more common causes of chronic progressive neuropathy, such as chronic inflammatory demyelinating polyneuropathy (CIDP) and diabetic or paraproteinemic neuropathies, which can obscure the diagnosis and delay definitive treatment. We report a 45-year-old male with progressive bilateral lower-limb distal-predominant weakness and numbness over three months, in whom the clinical picture and cerebrospinal fluid findings initially supported a working diagnosis of CIDP, despite coexisting thrombocytosis, skin hyperpigmentation, and newly diagnosed diabetes mellitus. Electroneuromyography showed severe sensorimotor mixed axonal and demyelinating neuropathy, and cerebrospinal fluid analysis demonstrated albuminocytologic dissociation, further reinforcing the initial impression of CIDP and illustrating the diagnostic conflict. However, serum studies identified an IgA lambda monoclonal protein, and fluorodeoxyglucose positron emission tomography revealed a solitary, metabolically active lesion in the right femur, raising suspicion for an underlying plasma cell dyscrasia rather than isolated inflammatory neuropathy. Histopathological examination of the femoral lesion confirmed a lambda-restricted plasmacytoma with minimal bone marrow plasma cell infiltration, fulfilling the diagnostic criteria for POEMS syndrome in conjunction with polyneuropathy, monoclonal plasma cell disorder, plasmacytoma, thrombocytosis, and skin changes. This case highlights the importance of considering POEMS syndrome in patients with atypical or treatment-refractory CIDP-like presentations and systemic features, and it underscores how a stepwise, multidisciplinary diagnostic approach incorporating electrophysiology, advanced imaging, and targeted histopathology can resolve overlapping differentials and guide timely, targeted therapy.

#5

Safety and efficacy of a novel traction balloon technique for guide-extension advancement in complex coronary interventions: a case series.

American journal of cardiovascular disease2026

Background: Severe coronary tortuosity and calcification frequently result in difficult device delivery during percutaneous coronary intervention (PCI). Conventional techniques for guide-extension (GE) insertion have reported success rates of 88-98.7% with complication rates of 1.6-5.9%. We aimed to evaluate the feasibility and safety of a novel traction balloon technique (TBT) to facilitate GE insertion to overcome these limitations and achieve reasonable procedural outcomes in complex coronary anatomy. Methods: We conducted a retrospective single-center case-series of consecutive patients who underwent GE-assisted PCI with TBT between December, 2020 and September, 2025. PCI cases in which, conventional methods of coronary device-delivery and/or GE insertion were unsuccessful were evaluated for GE-assisted PCI using TBT. The technique enables passive tracking of the GE through active traction to a large anchor-balloon inflated distally. Clinical characteristics, procedural-details, efficacy and safety endpoints were analyzed. Results: A total of 225 vessels from 214 patients (mean age 62.24 ± 9.8 years) underwent GE-assisted PCI using TBT. Clinical presentations included acute coronary syndrome (n=182, 85.05%), effort-angina (n=25, 11.68%), and heart-failure (n=7, 3.27%). Mean lesion-length was 52.15 ± 22.7 mm. All lesions were American College of Cardiology/American Heart Association type-C (n=225); and Society of Cardiovascular Angiography and Interventions type-2 (n=161, 71.56%) or type-4 (n=64, 28.44%) lesions. Median tortuosity-score was 2 (1-3) with extreme tortuosity in 75.56% of cases. Median calcification-grade was 2 (1-4) with heavy calcification in 40% of cases. Procedures were performed via upper-limb (n=194, 86.22%) or femoral (n=31, 13.78%) access. The indications for GE included distal delivery of balloons (n=195), stents (n=222) and others (n=199). The balloon-to-artery diameter ratio was 0.91 ± 0.1. The GE was inserted a median of 2 (1-6) times/vessel, achieving a mean maximum depth of 55.32 ± 17.9 mm. A total of 351 stents were deployed in 31 (12-131) minutes, with 100% procedural success. Complications included transient bradycardia and/or hypotension (n=2) and non-flow-limiting dissection (n=2). At a median follow-up of 22 (1-58) months, all patients remained asymptomatic, except for three patients who died. Conclusion: TBT-assisted GE insertion is a feasible and safe technique for device delivery during complex PCI, with high procedural success.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1 artigos no totalmostrando 200

2026

When Foot Drop Tells a Bigger Story: POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Plasma Cell Disorder, and Skin Changes) Syndrome Revealed by Femoral Plasmacytoma.

Cureus
2026

Safety and efficacy of a novel traction balloon technique for guide-extension advancement in complex coronary interventions: a case series.

American journal of cardiovascular disease
2026

Anatomical Mechanisms Underlying Clinically Reported Complications of the Infraclavicular Brachial Plexus Block: A Narrative Review.

Journal of clinical medicine
2026

An Unusual Presentation of Nicolau Syndrome in the Upper Limb: A Case Report from Northern Ecuadorian Amazonia.

Journal of clinical medicine
2026

Chronic Limb-Threatening Ischemia Owing to Popliteal Artery Aneurysms With Repeated Occlusion After Stent Graft Placement That was Successfully Treated With Supera Stent Reinforcement: A Case Report.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography &amp; Interventions
2026

Transcultural Adaptation of the Spanish Version of the ABILHAND Scale for Hand Surgery in a Colombian Population of Patients with Hand Pathologies.

Journal of hand surgery global online
2026

Pediatric Floating Elbow: A Case Report of Combined Supracondylar Humerus and Distal Both Bone Forearm Fractures in an 11-Year-Old Boy.

Cureus
2026

Case Report: Blood Pressure Cuff-Associated Compartment Syndrome of the Right Upper Extremity in a Patient With Multiple Comorbidities.

Journal of the American College of Emergency Physicians open
2026

Proximal Iliotibial Band Syndrome, A Rare Diagnosis of Lateral Thigh Pain in A Nonathlete: A Case Report.

Pain medicine case reports
2026

An Atypical Presentation of Guillain-Barré Syndrome: Bilateral Facial Nerve Palsy With Preserved Reflexes.

Cureus
2026

Refractory Rickets: Evaluation and Management.

Indian journal of pediatrics
2026

Genetic Syndromes Associated With Congenital Upper Limb Differences.

The Journal of hand surgery
2026

Madelung Deformity: A Current Concepts Review.

The Journal of hand surgery
2026

Postthrombotic syndrome: risk after deep vein thrombosis and estimates of its incidence and prevalence in Europe.

Journal of thrombosis and haemostasis : JTH
2026

Rerouting the outflow tract of an autologous arteriovenous fistula to restore distal limb return flow in a hemodialysis patient: A case report.

The journal of vascular access
2025

Primary Sjögren's Syndrome Presenting With Severe Hypokalemia Due to Distal Renal Tubular Acidosis: A Case Report.

Cureus
2025

The Role of Distal Femoral Bypass in Limb Salvage Following High-Energy Femoral Fractures With Arterial Disruption: A Systematic Review.

Cureus
2026

Three-dimensional anatomical description of the microarchitecture of the distal sesamoid bone in healthy and navicular syndrome-affected horses by computed microtomography.

Anatomical record (Hoboken, N.J. : 2007)
2025

Effect of standard versus long alimentary limb distal Roux-en-Y gastric bypass on weight loss and nutritional outcomes at 10 years in patients with BMI 50-60 kg/m2-a secondary analysis of a randomized clinical trial.

The British journal of surgery
2025

Adams-Oliver Syndrome: A Clinical Diagnosis in the Genomic Era.

Cureus
2026

A fatal case of extensive arteriovenous malformation.

Journal of cardiology cases
2025

Bubble CPAP in neonatal care: mechanisms, evidence, and pathways to optimization.

Paediatric respiratory reviews
2026

Complex revision elbow arthroplasty for periprosthetic Holstein-Lewis fracture with delayed onset radial nerve entrapment after skydiving injury.

BMJ case reports
2025

Paraneoplastic Raynaud's Phenomenon: A Case Report.

Cureus
2025

Rare systemic artery lesions due to Kawasaki disease diagnosed in adults: a review of the literature on abdominal aortic aneurysms and renovascular hypertension.

Cardiology in the young
2026

Genome-wide meta-analysis identifies genetic risk loci for mono- and polyneuropathies in 983 477 individuals.

Human molecular genetics
2026

Paraneoplastic neurological syndrome with Guillain-Barré syndrome overlap in small-cell lung carcinoma: A case report from a primary care hospital in China.

Medicine
2025

"Less is More"- A Minimalistic Surgical Intervention to Correct the Right Upper Limb Deformity in an Isolated Right Radial Club Hand: A Case Report.

Journal of orthopaedic case reports
2025

Herpes simplex virus 2-associated symmetrical peripheral gangrene in an immunocompetent fourteen-year-old girl: a case report.

Translational pediatrics
2026

Comparison of Extracorporeal Radial Shock Wave Different Doses On Carpal Tunnel Syndrome: A Preliminary Study.

NeuroRehabilitation
2026

Acute Compartment Syndrome Following Non-Displaced Proximal Ulnar and Distal Radial Fractures in a Four-Year-Old Girl.

Journal of medical cases
2025

Acute Aortic Occlusion Mimicking Cauda Equina Syndrome: Complete Neurologic Recovery After Emergent Endovascular Revascularization.

Cureus
2025

Limb Salvage Through Endovascular Repair of an Iatrogenic Superficial Femoral Artery Pseudoaneurysm Following Femoral Fracture Fixation.

Cureus
2025

Pronator quadratus sutured or not after ORIF by anterior plate: Ultrasound control of its interest in the protection of the Flexor Pollicis Longus.

Orthopaedics &amp; traumatology, surgery &amp; research : OTSR
2025

Unmasking Compartment Syndrome in an Autistic Adolescent: A Case of Median Nerve Compression Following Distal Radius Open Reduction and Internal Fixation (ORIF).

Cureus
2025

Hypokalemic Quadriparesis as the Initial Presentation of Sjögren's Syndrome With Distal Renal Tubular Acidosis: A Case Report.

Cureus
2025

[Systemic lupus erythematosus complicated by autoimmune nodopathy: A case report].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
2025

Standing Still: A Case of Stiff Person Syndrome and Common Variable Immunodeficiency.

Cureus
2025

Symptom Improvement in a Patient With Chronic Pronator Teres Syndrome Treated With Ultrasound-Guided Hydrodissection and Manual Therapy: A Case Report.

Cureus
2026

Challenges in Diagnosis and Management of Complex Regional Pain Syndrome: Insights From a Retrospective 9-Year Review in an Academic Medical Center.

The American journal of occupational therapy : official publication of the American Occupational Therapy Association
2025

Expanding the phenotypic and imaging spectrum of GFPT1-related congenital myasthenic syndromes: a Brazilian case series.

Frontiers in neurology
2025

Functional Bracing Versus Rigid Plaster Casting for the Immobilization of Colles Fractures in Adults: A Meta-Analysis of Randomized Controlled Trials.

Hand (New York, N.Y.)
2026

Reconstruction of Thumb and Index Flexion in High Median Nerve Paralysis Using a Single Radial Wrist Extensor Tendon Transfer.

The Journal of hand surgery
2025

Outcomes of Opponensplasty with Transfer of the Palmaris Longus Tendon to the Rerouted Extensor Pollicis Brevis Tendon for Severe Carpal Tunnel Syndrome.

The journal of hand surgery Asian-Pacific volume
2025

Case Report: autosomal dominant distal motor neuropathy as a new phenotype of KIF21A-related disorders.

Frontiers in genetics
2025

Wallenberg Syndrome After Leg Day Training: A Case Report.

Cureus
2025

Endovascular Management of Leriche Syndrome in a 76-Year-Old Woman: A Case Report.

Cureus
2025

Unique Case of a 6 centimetre Ruptured Popliteal Artery Aneurysm Causing Thigh Compartment Syndrome.

Vascular and endovascular surgery
2025

Endoscopic gluteus maximus release for peritrochanteric decompression.

Acta ortopedica mexicana
2026

Polyarteritis nodosa presenting with TAFRO signs following COVID-19 infection: case report.

Modern rheumatology case reports
2025

Association Between Chronic Pain and Jumping-to-Conclusions Behaviour.

Pain research &amp; management
2025

PTA-DFS study: design of a randomised controlled trial assessing the effects of early percutaneous transluminal angioplasty on the healing of diabetic foot ulcers in persons with type 2 diabetes.

BMC cardiovascular disorders
2025

Atypical Presentation of Toxic Shock Syndrome in a Patient With Postpartum Necrotizing Endometritis.

Cureus
2025

Polyneuropathy in Wild-Type Transthyretin Amyloidosis.

European journal of neurology
2025

Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case.

BMC pediatrics
2025

Evaluation of Emerging Technologies to Aid in the Detection and Diagnosis of Acute Extremity Compartment Syndrome.

Diagnostics (Basel, Switzerland)
2025

An Uncommon Presentation of Guillain-Barré Syndrome in a Young Postpartum Woman.

Cureus
2025

Transcutaneous oxygen pressure-guided prophylactic fasciotomy and negative pressure wound therapy for contrast extravasation injury of the hand: A case report.

Medicine
2025

Coexistence of Acute Demyelinating Polyneuropathy and LRP4-Positive Myasthenia Gravis.

Case reports in neurological medicine
2025

[Clinical application characteristics of acupuncture and moxibustion in treatment of cervicogenic headache based on complex network analysis].

Zhen ci yan jiu = Acupuncture research
2025

13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies.

International journal of molecular sciences
2025

Median Nerve Diameter Ratio on Ultrasound as a Complementary Tool to Electrodiagnostic Testing in Carpal Tunnel Syndrome.

Diagnostics (Basel, Switzerland)
2025

Correlation of body composition and anthropometric indices with electrodiagnostic and ultrasonographic findings in patients with carpal tunnel syndrome.

BMC musculoskeletal disorders
2025

[A case report of glycogen storage disease type III combined with Guillain-Barré syndrome and literature review].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Severe Pediatric Arterial Thrombosis in Antiphospholipid Syndrome and Systemic Lupus Erythematosus: A Case Report.

Cureus
2025

Proximal Tibial Resection for Bone Tumor and Prosthetic Reconstruction Combined with Medial Gastrocnemius Flap.

JBJS essential surgical techniques
2025

Axillary Artery Variant: A Cadaveric Case Report and Clinical Significance.

Cureus
2025

Clinical & laboratory profiles and treatment outcome of Kawasaki disease in children: Experience from a tertiary care hospital.

PloS one
2025

Guillain-Barré Syndrome Mimicking Autoimmune Hepatitis: A Rare Entity.

ACG case reports journal
2026

ZMIZ1-Associated Neurodevelopmental Disorder in a 52-Year-Old Woman.

American journal of medical genetics. Part A
2025

Peripheral Neuromodulation for Treatment of Upper Extremity Complex Regional Pain Syndrome Following Peripherally Inserted Central Catheter Placement: A Case Report.

Pain medicine case reports
2025

Lower extremity extracorporeal distal revascularization (LEEDR) as a novel approach to limb salvage following prolonged ischemia.

Scientific reports
2025

Topographic anatomical landmarks for targeted nerve infiltration in distal radius fracture surgery.

Hand surgery &amp; rehabilitation
2025

Clinically relevant variations in the area of the ulnar nerve sulcus and their relationship to surgical approaches to the elbow.

Rozhledy v chirurgii : mesicnik Ceskoslovenske chirurgicke spolecnosti
2025

Management of Finger Felons and Paronychia: A Narrative Review.

The Journal of emergency medicine
2026

Torsional Malalignment Syndrome: The Hidden Role of Medial Tibial Slope in Knee Varus and the Potential of PETS Treatment for Correction.

Journal of pediatric orthopedics
2025

Cadaveric Study Reveals Anatomical Variations of the Recurrent Thenar Branch of the Median Nerve in the Carpal Tunnel.

Cureus
2025

Entheseal structural damage according to OMERACT definitions unveils distinct ultrasound phenotypes in SpA: findings from the DEUS multicentre study.

Seminars in arthritis and rheumatism
2025

A 10-year review of iliofemoral deep vein thrombosis - are they more dangerous than their distal counterparts?

Journal of thrombosis and thrombolysis
2025

Co-occurrence of ipsilateral partial Horner's syndrome in a patient with monomelic amyotrophy.

BMJ case reports
2025

Parkes Weber syndrome, a rare case of pulmonary hypertension: a case report.

European heart journal. Case reports
2025

A Case of Progressive Flaccid Quadriparesis in a Young Woman: Diagnostic Pitfalls and the Role of Backward Reasoning.

Journal of clinical neuromuscular disease
2025

A case report of zoster-induced Guillain-Barré syndrome: diagnostic challenges and potential role of pulse prednisone.

Annals of medicine and surgery (2012)
2025

Promoting early detection of necrotizing soft tissue infection of the upper extremity in patients with history of breast cancer: a case report.

BMC women's health
2025

Radial Periosteal Distraction as a Novel Intervention for Raynaud Syndrome with Gangrene: A Case Report.

The American journal of case reports
2025

Comparison of the therapeutic effects of modified 15-mm incision minimally invasive approach with the conventional approach in the treatment of AO 23-B3 distal radius fractures.

Injury
2025

Peripheral Parking: A Bailout Strategy for Managing Dislodged Coronary Stents.

Cureus
2025

[Pisa syndrome with laterocollis associated with bilateral chronic subdural hematomas: a case report with reference to peripheral vestibular hypofunction].

Rinsho shinkeigaku = Clinical neurology
2025

Central Pontine Myelinolysis in a Patient with Alcohol Use Disorder without Hyponatremia: A Case Report.

The American journal of case reports
2025

Retrospective Analysis of Cases of Probable Canine Cutaneous Toxic Shock Syndrome for Clues to Facilitate an Early Diagnosis.

Veterinary dermatology
2025

Improvements in a patient with upper limb double crush syndrome through integrative Korean medicine treatment: A case report.

Medicine
2025

Trans-Ulnar Single Incision Fasciotomy for Decompression of Forearm Compartment Syndrome: A Cadaveric Study.

Orthopaedic surgery
2025

Postero-lateral elbow dislocation with traumatic brachial artery disruption.

Orthopedic reviews
2025

Lower Extremity Cast Application.

Journal of the Pediatric Orthopaedic Society of North America
2025

Superior Primary Stability of a Knotless Double-Row Construct Compared to Mason-Allen Repair for Anatomical Refixation of Gluteal Tendons-Biomechanical Human Cadaver Study.

Orthopaedic surgery
2025

Amyloid Biopsy During Endoscopic Carpal Tunnel Release: A Comparison of Tenosynovial and Antebrachial Fascia Specimens.

The Journal of hand surgery
2025

Guillain-Barré syndrome with T-cell receptor gene clonal rearrangement following COVID-19 vaccination: a case report.

Clinical and experimental vaccine research
2025

An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.

Methods in molecular biology (Clifton, N.J.)
2025

Ischaemic cauda equina syndrome: an atypical presentation of acute aortic occlusion .

BMJ case reports
2025

Gastrointestinal Manifestations of Yao Syndrome (NOD2-Associated Autoinflammatory Disease).

Digestive diseases and sciences
2025

Mechanical Thrombectomy for Iliofemoral Deep Venous Thrombosis Complicated by Phlegmasia Cerulea Dolens in a Pregnant Patient With May-Thurner Syndrome: A Case Report.

Cureus
2025

Metastatic Lymphoma of the Ulnar Nerve: A Case Report.

Orthopedics
2025

Acute compartment syndrome following cardiovascular surgery: a rare and catastrophic complication highlighting the importance of early detection and intervention.

BMC cardiovascular disorders
2025

Atypical Presentation of Acute Compartment Syndrome in the Lower Limb: A Case Report of When Pain Does Not Guide the Diagnosis.

Cureus
2025

DCTN1-associated neurological disorder with symptoms similar to spinal bulbar muscular atrophy.

Journal of neuromuscular diseases
2025

Klippel-Trenaunay Syndrome in the Distal Part of the Unilateral Upper Limb and Venous Deficiency: A Case Report.

JNMA; journal of the Nepal Medical Association
2025

Infantile epileptic spasms syndrome as a new phenotype in TOP2B deficiency caused by a de novo variant: a case report and literature review.

Frontiers in pediatrics
2025

Temporary Extracorporeal Bypass System for Prevention of Acute Limb Ischemia From Percutaneous Ventricular Assist Device.

JACC. Case reports
2025

Endoscopic management of candy cane syndrome with a lumen-apposing metal stent.

VideoGIE : an official video journal of the American Society for Gastrointestinal Endoscopy
2025

Deep Gluteal Pain Syndrome: Technical Description of the Endoscopic Approach and Anatomical Considerations.

JBJS essential surgical techniques
2025

Vasculitic Neuropathy With Iron Deficiency-Related Chronic Inflammation Followed by Elevated Serum Vascular Endothelial Growth Factor: A POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy, and Skin Changes) Syndrome Mimic.

Cureus
2025

First rib resection and corrective clavicle osteotomy using the infraclavicular approach for thoracic outlet syndrome due to clavicle malunion: A case report.

BMC musculoskeletal disorders
2025

Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency.

Pediatric neurology
2026

Z-type shortening osteotomy of the proximal phalanx: A novel and safe joint sparing intervention to shorten lesser toes with good short-term outcome.

Foot and ankle surgery : official journal of the European Society of Foot and Ankle Surgeons
2024

Effective Sufentanil Intrathecal Pump Treatment in a Patient With Refractory Complex Regional Pain Syndrome: A Case Report.

Pain medicine case reports
2025

Staged approach for upper extremity chronic ischemia in high-performing athlete with arterial thoracic outlet syndrome.

Journal of vascular surgery cases and innovative techniques
2026

Perforating Vein Arteriovenous Fistulas: A Secondary Lifeline for Hemodialysis Patients with Forearm Vascular Challenges.

Annals of vascular surgery
2025

Phoenix Atherectomy in Calcified Common Femoral and Popliteal Artery Chronic Total Occlusion. A Retrospective Cohort Study.

South Dakota medicine : the journal of the South Dakota State Medical Association
2025

[Surgical strategies for osteotomy correction of severe lower limb deformities in hypophosphatemic rickets].

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery
2025

A Japanese Case of Lenz-Majewski Syndrome With a Novel PTDSS1 Variant.

Molecular genetics &amp; genomic medicine
2025

Myofibrillar Myopathy: Clinico-Genetic Spectrum From a Neuromuscular Center in South India.

Journal of clinical neuromuscular disease
2025

That's a wrap - the use of an Esmarch bandage to treat compartment syndrome of the forearm in a paediatric patient.

Trauma case reports
2025

Myopathic Ehlers-Danlos Syndrome (mEDS) Related to COL12A1: Two Novel Families and Literature Review.

International journal of molecular sciences
2025

Novel Use of Intraoperative Laser Angiography to Assess Anastomosis Perfusion in Pediatric Rotationplasty Limb Salvage Surgery: A Case Report.

JBJS case connector
2025

Consistency of 3D reconstruction measurements of lower limb torsion at different segments with the CT gold standard.

Scientific reports
2025

Long-Read Whole-Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly.

American journal of medical genetics. Part A
2025

Sulfatide antibody-mediated neuropathy: an analysis of clinical characteristics and immunotherapeutic responses.

Neurological research
2025

A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant.

Orphanet journal of rare diseases
2025

Intraoperative assessment and treatment of residual distal malperfusion improves outcomes in patients with acute Debakey I dissection.

Interdisciplinary cardiovascular and thoracic surgery
2025

Effects of the Missense Variants on Complete Phenotype and Splicing Variant on Severe Growth Retardation in the BPTF Gene.

Developmental neurobiology
2025

How to Apply the Sequential Correction Technique to Treatment of Congenital Cervicothoracic Scoliosis: A Technical Note and Case Series.

Orthopaedic surgery
2025

Spatial distribution of pain in complex regional pain syndrome.

Pain
2025

Intercalated Cell ClC-K2 Channel Contributes to Systemic Cl- Balance and Acid-Base Homeostasis.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2025

[Pronator teres syndrome in association with compressive neuropathies on the upper limb. Serial cases and bibliographic review].

Semergen
2025

Clinical progression of a case of toe-tip necrosis syndrome in a feedlot steer.

The Canadian veterinary journal = La revue veterinaire canadienne
2024

[MEP-24] Middle Aortic Syndrome in An Adult Presenting with Limb Ischemia.

Turk gogus kalp damar cerrahisi dergisi
2025

Feasibility and safety of the distal radial access for vascular access interventional therapy.

Cardiovascular intervention and therapeutics
2025

Foot drop in the setting of VA-ECMO: A possible alternative mechanism to ischemia.

Asian cardiovascular &amp; thoracic annals
2025

[Ring chromosome 21 syndrome: report of 2 cases].

Revista medica del Instituto Mexicano del Seguro Social
2025

Neurological Manifestations of Zika Virus Infection: An Updated Review of the Existing Literature.

Cureus
2025

Case Report: Successful treatment of severe Guillain-Barré syndrome with paralytic ileus as a presenting symptom by intensive immunotherapy.

Frontiers in immunology
2024

Dual Femoral and Tibial Osteotomies for Large Varus and Valgus Deformities.

Strategies in trauma and limb reconstruction
2025

Embryonic Vascular Dysgenesis: The Origin of Proximal Femoral Focal Deficiency.

Birth defects research
2025

Leriche syndrome: Importance of diagnostic imaging for early detection and management.

Radiology case reports
2025

Peripheral Nervous System Complications after COVID-19 Vaccination.

Journal of integrative neuroscience
2025

Stickler syndrome: associated musculoskeletal manifestations and first population-based incidence.

Journal of pediatric orthopedics. Part B
2025

Diagnostic Challenges of Polyneuropathy, Organomegaly, Endocrinopathy, M-protein, and Skin Changes (POEMS) Syndrome: A Rare Case Report and Review of the Literature.

Cardiovascular &amp; hematological disorders drug targets
2025

Vascular Steal Phenomenon in Lower Extremity Reconstruction: A Review of Literature and Case Report.

Annals of plastic surgery
2025

ANCA Negative Vasculitis Manifesting as Pulmonary-Renal Syndrome in a Patient with Chronic Osteomyelitis.

The Journal of the Association of Physicians of India
2024

Manual therapy compared to surgery in the treatment of moderate carpal tunnel syndrome.

Postepy psychiatrii neurologii
2025

Utility of Median Nerve Electrophysiological Parameters in Differentiating Immune-Mediated Demyelination From Compressive Median Neuropathy at the Wrist.

Muscle &amp; nerve
2025

Effectiveness of combining a proximal strengthening exercise program and foot orthosis on pain and performance among women with patellofemoral pain syndrome and a pronated foot: study protocol for a randomized clinical trial.

Trials
2025

Acute onset anti-MAG neuropathy and paradoxical worsening to rituximab: a challenging case.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2026

Management of severe, neglected, bilateral congenital knee dislocation.

Journal of pediatric orthopedics. Part B
2025

Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints.

Journal of neuromuscular diseases
2025

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.

Genetics in medicine : official journal of the American College of Medical Genetics
2025

Asymptomatic Preaxial Polydactyly of Bifid Hallux Without a Supernumerary Digit Presenting With Earlobe Malformations: A Rare Case Report.

Foot &amp; ankle specialist
2025

[A case of anti-synthetase syndrome: negative ELISA/immunoblot, but positive RNA immunoprecipitation with multiple antibodies].

Rinsho shinkeigaku = Clinical neurology
2025

Post-COVID-19 Small Fiber Neuropathy as a New Emerging Quality of Life-Threatening Disease: A Systematic Review.

Microorganisms
2025

Effect of platelet-rich plasma on angiogenic and regenerative properties in patients with critical limb ischemia.

Regenerative therapy
2025

Gitelman syndrome presenting with lower limb paralysis: a case report.

Journal of medical case reports
2025

Unraveling the Genetic Landscape of Foot Arch Morphology: A Systematic Review of Single Nucleotide Polymorphisms.

Clinical genetics
2025

Transgenic mice with a global depletion of toll-like receptor type 4 are largely protected from peripheral and central posttraumatic neuroinflammation.

The journal of pain
2025

Novel Case of Ipsilateral Supracondylar Fracture with Distal Radio-Ulna Fracture with Acute Compartment Syndrome: A Rare Case Report.

Journal of orthopaedic case reports
2025

Deformity Correction and Limb Lengthening in Maffucci Syndrome - A Case Report.

Journal of orthopaedic case reports
2025

S-design osteotomy and internal fixation for multiplanar and acute correction of deformity in infantile Blount's disease - preliminary results from single centre series.

International orthopaedics
2025

A Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review.

Molecular syndromology
2025

Reconstructive surgery to preserve ankle function in a 5-year-old girl with bilobed distal tibia in an unclassified case of tibial hemimelia: a case report.

Journal of medical case reports
2025

Adult-Onset Still's Disease With Normal Ferritin Levels and Severe Sulfasalazine-Induced Probable Case of Drug Reaction With Eosinophilia and Systemic Symptoms (DRESS) Syndrome: A Unique Presentation and Management Challenges.

Cureus
2025

Infective endocarditis causing acute aortic occlusion in a patient with systemic lupus erythematosus: A rare case report.

International journal of surgery case reports
2024

High-Pressure Injection Injury of the Hand-A Rare but True Surgical Emergency.

Journal of clinical medicine
2025

Does the AO/OTA fracture classification dictate the anesthesia modality for the surgical management of unstable distal radius fractures? - A retrospective cohort study in 127 patients managed by general vs. regional anesthesia.

Patient safety in surgery
2025

The age, sex, and provoked factors of acute symptomatic deep vein thrombosis on the left and right lower extremities.

Chinese journal of traumatology = Zhonghua chuang shang za zhi
2025

Autoimmune Tubulopathies.

Journal of the American Society of Nephrology : JASN
2024

Exploring Reverse Sural Flap Necrosis in Lupus-like Syndrome: Challenges and Strategies in Lower Limb Reconstruction-A Case Presentation.

Medicina (Kaunas, Lithuania)
2024

Vascular ultrasound diagnosis and clinical implications of aberrant anterior tibial artery: case report.

Jornal vascular brasileiro
2025

Successful surgical management of Leriche syndrome in a 30-year-old female patient: A rare case report.

International journal of surgery case reports
2024

Prevalence of Complications Due to Transphyseal Hematogenous Osteomyelitis.

The Journal of bone and joint surgery. American volume
2024

Rotational osteotomy of forearm bones for treatment of congenital radioulnar synostosis in children.

Journal of orthopaedic surgery and research
2024

Interventional Physiatry in the Complex Regional Pain Syndrome of the Upper Limb Following Herpes Zoster.

Cureus
2024

An Atypical Case of Miller Fisher Syndrome.

Cureus
2024

Limb salvage in Christmas disease masquerading as fungating aneurysmal bone cyst.

BMJ case reports
2024

Accuracy of the Standard and Distal-to-Proximal Sequence of the Upper Limb Neurodynamic Test 1 for the Diagnosis of Carpal Tunnel Syndrome: The Role of Side-to-Side Comparisons.

Journal of clinical medicine
2025

ECEL1 mutation in distal arthrogryposis type 5D: A case report.

European journal of obstetrics, gynecology, and reproductive biology
2024

[Postoperative outcomes after simultaneous surgery for cervical radiculopathy combined with distal peripheral nerve compression].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2024

Yellow nail syndrome linked to a mediastinal lipoma: a case report.

Journal of medical case reports
2024

Intraoperative Bone Cement Implantation Syndrome in a Pediatric Patient: A Case Report.

JBJS case connector
2024

Genetically confirmed Charcot-Marie-Tooth disease type 2A manifesting with postural tremor: a case report.

Journal of medical case reports
2025

Double Crush Syndrome in the Lower Extremity: Simultaneous L5 Radiculopathy and Common Peroneal Nerve Compression.

World neurosurgery
2024

Incidence and treatment of complex regional pain syndrome after surgery: analysis of claims data from Germany.

Pain reports
2026

Successful surgical management of anterior cervical meningomyelocele associated with Klippel-Feil deformity using anterior vertebral reconstruction: a case report.

British journal of neurosurgery
2025

Blue toe syndrome - systemic cholesterol crystal embolism secondary to cardiovascular procedures: a forensic autopsy report of two cases.

Forensic science, medicine, and pathology
2024

Surgical Considerations in the Management of Constriction Ring Syndrome.

The journal of hand surgery Asian-Pacific volume
2024

Long-Term Surgical Success in Treating Vohwinkel Syndrome: A Case Report.

JBJS case connector
2025

The effectiveness of shoe modifications and foot orthoses in conservative treatment of lesser toe deformities: a review of literature.

Musculoskeletal surgery
2024

Percutaneous decannulation of extracorporeal membrane oxygenation using MANTA device: A real-world single-center experience.

World journal of cardiology
2024

Efficacy of REAC Neurobiological Optimization Treatments in Post-Polio Syndrome: A Manual Muscle Testing Evaluation.

Journal of personalized medicine
2024

Efficacy of Laser Acupuncture on Neurophysiological Parameters of Median Nerve and Hand Function in Postpartum Women: A Randomized Controlled Clinical Trial.

Photobiomodulation, photomedicine, and laser surgery
2024

Lower limb acute onset muscle pain: what do we have to look for? A case of isolated rupture of the rectus femoris.

European journal of translational myology
2024

Clinical-applied anatomy of the carpal tunnel regarding mini-invasive carpal tunnel release.

Archives of orthopaedic and trauma surgery

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome de anomalias distais dos membros-micrognatia.

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 Síndrome de anomalias distais dos membros-micrognatia

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 login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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.

  1. Refractory Rickets: Evaluation and Management.
    Indian journal of pediatrics· 2026· PMID 41741919mais citado
  2. Complex revision elbow arthroplasty for periprosthetic Holstein-Lewis fracture with delayed onset radial nerve entrapment after skydiving injury.
    BMJ case reports· 2026· PMID 41545217mais citado
  3. Genome-wide meta-analysis identifies genetic risk loci for mono- and polyneuropathies in 983&#x2009;477 individuals.
    Human molecular genetics· 2026· PMID 41518141mais citado
  4. When Foot Drop Tells a Bigger Story: POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Plasma Cell Disorder, and Skin Changes) Syndrome Revealed by Femoral Plasmacytoma.
    Cureus· 2026· PMID 41869182mais citado
  5. Safety and efficacy of a novel traction balloon technique for guide-extension advancement in complex coronary interventions: a case series.
    American journal of cardiovascular disease· 2026· PMID 41867915mais citado
  6. Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case.
    BMC Pediatr· 2025· PMID 41188742recente
  7. Torsional Malalignment Syndrome: The Hidden Role of Medial Tibial Slope in Knee Varus and the Potential of PETS Treatment for Correction.
    J Pediatr Orthop· 2026· PMID 40932220recente
  8. [Pisa syndrome with laterocollis associated with bilateral chronic subdural hematomas: a case report with reference to peripheral vestibular hypofunction].
    Rinsho Shinkeigaku· 2025· PMID 40850770recente
  9. [Ring chromosome 21 syndrome: report of 2 cases].
    Rev Med Inst Mex Seguro Soc· 2025· PMID 40267370recente
  10. [A case of anti-synthetase syndrome: negative ELISA/immunoblot, but positive RNA immunoprecipitation with multiple antibodies].
    Rinsho Shinkeigaku· 2025· PMID 40010716recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1307(Orphanet)
  2. OMIM OMIM:246560(OMIM)
  3. MONDO:0009525(MONDO)
  4. GARD:3252(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q104023277(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

Síndrome de anomalias distais dos membros-micrognatia
Compêndio · Raras BR

Síndrome de anomalias distais dos membros-micrognatia

ORPHA:1307 · MONDO:0009525
Prevalência
<1 / 1 000 000
Casos
6 casos conhecidos
Herança
Autosomal recessive
CID-10
Q92.3 · Trissomia parcial minor
CID-11
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4302673
EuropePMC
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades