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.
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
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 17 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 39 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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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 — 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
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.
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Refractory Rickets: Evaluation and Management.
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.
Complex revision elbow arthroplasty for periprosthetic Holstein-Lewis fracture with delayed onset radial nerve entrapment after skydiving injury.
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.
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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.
When Foot Drop Tells a Bigger Story: POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Plasma Cell Disorder, and Skin Changes) Syndrome Revealed by Femoral Plasmacytoma.
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.
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Orthopedic reviewsLower Extremity Cast Application.
Journal of the Pediatric Orthopaedic Society of North AmericaSuperior Primary Stability of a Knotless Double-Row Construct Compared to Mason-Allen Repair for Anatomical Refixation of Gluteal Tendons-Biomechanical Human Cadaver Study.
Orthopaedic surgeryAmyloid Biopsy During Endoscopic Carpal Tunnel Release: A Comparison of Tenosynovial and Antebrachial Fascia Specimens.
The Journal of hand surgeryGuillain-Barré syndrome with T-cell receptor gene clonal rearrangement following COVID-19 vaccination: a case report.
Clinical and experimental vaccine researchAn 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.)Ischaemic cauda equina syndrome: an atypical presentation of acute aortic occlusion .
BMJ case reportsGastrointestinal Manifestations of Yao Syndrome (NOD2-Associated Autoinflammatory Disease).
Digestive diseases and sciencesMechanical Thrombectomy for Iliofemoral Deep Venous Thrombosis Complicated by Phlegmasia Cerulea Dolens in a Pregnant Patient With May-Thurner Syndrome: A Case Report.
CureusMetastatic Lymphoma of the Ulnar Nerve: A Case Report.
OrthopedicsAcute compartment syndrome following cardiovascular surgery: a rare and catastrophic complication highlighting the importance of early detection and intervention.
BMC cardiovascular disordersAtypical Presentation of Acute Compartment Syndrome in the Lower Limb: A Case Report of When Pain Does Not Guide the Diagnosis.
CureusDCTN1-associated neurological disorder with symptoms similar to spinal bulbar muscular atrophy.
Journal of neuromuscular diseasesKlippel-Trenaunay Syndrome in the Distal Part of the Unilateral Upper Limb and Venous Deficiency: A Case Report.
JNMA; journal of the Nepal Medical AssociationInfantile epileptic spasms syndrome as a new phenotype in TOP2B deficiency caused by a de novo variant: a case report and literature review.
Frontiers in pediatricsTemporary Extracorporeal Bypass System for Prevention of Acute Limb Ischemia From Percutaneous Ventricular Assist Device.
JACC. Case reportsEndoscopic management of candy cane syndrome with a lumen-apposing metal stent.
VideoGIE : an official video journal of the American Society for Gastrointestinal EndoscopyDeep Gluteal Pain Syndrome: Technical Description of the Endoscopic Approach and Anatomical Considerations.
JBJS essential surgical techniquesVasculitic 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.
CureusFirst rib resection and corrective clavicle osteotomy using the infraclavicular approach for thoracic outlet syndrome due to clavicle malunion: A case report.
BMC musculoskeletal disordersCyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency.
Pediatric neurologyZ-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 SurgeonsEffective Sufentanil Intrathecal Pump Treatment in a Patient With Refractory Complex Regional Pain Syndrome: A Case Report.
Pain medicine case reportsStaged approach for upper extremity chronic ischemia in high-performing athlete with arterial thoracic outlet syndrome.
Journal of vascular surgery cases and innovative techniquesPerforating Vein Arteriovenous Fistulas: A Secondary Lifeline for Hemodialysis Patients with Forearm Vascular Challenges.
Annals of vascular surgeryPhoenix 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[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 surgeryA Japanese Case of Lenz-Majewski Syndrome With a Novel PTDSS1 Variant.
Molecular genetics & genomic medicineMyofibrillar Myopathy: Clinico-Genetic Spectrum From a Neuromuscular Center in South India.
Journal of clinical neuromuscular diseaseThat's a wrap - the use of an Esmarch bandage to treat compartment syndrome of the forearm in a paediatric patient.
Trauma case reportsMyopathic Ehlers-Danlos Syndrome (mEDS) Related to COL12A1: Two Novel Families and Literature Review.
International journal of molecular sciencesNovel Use of Intraoperative Laser Angiography to Assess Anastomosis Perfusion in Pediatric Rotationplasty Limb Salvage Surgery: A Case Report.
JBJS case connectorConsistency of 3D reconstruction measurements of lower limb torsion at different segments with the CT gold standard.
Scientific reportsLong-Read Whole-Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly.
American journal of medical genetics. Part ASulfatide antibody-mediated neuropathy: an analysis of clinical characteristics and immunotherapeutic responses.
Neurological researchA cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant.
Orphanet journal of rare diseasesIntraoperative assessment and treatment of residual distal malperfusion improves outcomes in patients with acute Debakey I dissection.
Interdisciplinary cardiovascular and thoracic surgeryEffects of the Missense Variants on Complete Phenotype and Splicing Variant on Severe Growth Retardation in the BPTF Gene.
Developmental neurobiologyHow to Apply the Sequential Correction Technique to Treatment of Congenital Cervicothoracic Scoliosis: A Technical Note and Case Series.
Orthopaedic surgerySpatial distribution of pain in complex regional pain syndrome.
PainIntercalated 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[Pronator teres syndrome in association with compressive neuropathies on the upper limb. Serial cases and bibliographic review].
SemergenClinical progression of a case of toe-tip necrosis syndrome in a feedlot steer.
The Canadian veterinary journal = La revue veterinaire canadienne[MEP-24] Middle Aortic Syndrome in An Adult Presenting with Limb Ischemia.
Turk gogus kalp damar cerrahisi dergisiFeasibility and safety of the distal radial access for vascular access interventional therapy.
Cardiovascular intervention and therapeuticsFoot drop in the setting of VA-ECMO: A possible alternative mechanism to ischemia.
Asian cardiovascular & thoracic annals[Ring chromosome 21 syndrome: report of 2 cases].
Revista medica del Instituto Mexicano del Seguro SocialNeurological Manifestations of Zika Virus Infection: An Updated Review of the Existing Literature.
CureusCase Report: Successful treatment of severe Guillain-Barré syndrome with paralytic ileus as a presenting symptom by intensive immunotherapy.
Frontiers in immunologyDual Femoral and Tibial Osteotomies for Large Varus and Valgus Deformities.
Strategies in trauma and limb reconstructionEmbryonic Vascular Dysgenesis: The Origin of Proximal Femoral Focal Deficiency.
Birth defects researchLeriche syndrome: Importance of diagnostic imaging for early detection and management.
Radiology case reportsPeripheral Nervous System Complications after COVID-19 Vaccination.
Journal of integrative neuroscienceStickler syndrome: associated musculoskeletal manifestations and first population-based incidence.
Journal of pediatric orthopedics. Part BDiagnostic Challenges of Polyneuropathy, Organomegaly, Endocrinopathy, M-protein, and Skin Changes (POEMS) Syndrome: A Rare Case Report and Review of the Literature.
Cardiovascular & hematological disorders drug targetsVascular Steal Phenomenon in Lower Extremity Reconstruction: A Review of Literature and Case Report.
Annals of plastic surgeryANCA Negative Vasculitis Manifesting as Pulmonary-Renal Syndrome in a Patient with Chronic Osteomyelitis.
The Journal of the Association of Physicians of IndiaManual therapy compared to surgery in the treatment of moderate carpal tunnel syndrome.
Postepy psychiatrii neurologiiUtility of Median Nerve Electrophysiological Parameters in Differentiating Immune-Mediated Demyelination From Compressive Median Neuropathy at the Wrist.
Muscle & nerveEffectiveness 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.
TrialsAcute 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 NeurophysiologyManagement of severe, neglected, bilateral congenital knee dislocation.
Journal of pediatric orthopedics. Part BRecent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints.
Journal of neuromuscular diseasesHeterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.
Genetics in medicine : official journal of the American College of Medical GeneticsAsymptomatic Preaxial Polydactyly of Bifid Hallux Without a Supernumerary Digit Presenting With Earlobe Malformations: A Rare Case Report.
Foot & ankle specialist[A case of anti-synthetase syndrome: negative ELISA/immunoblot, but positive RNA immunoprecipitation with multiple antibodies].
Rinsho shinkeigaku = Clinical neurologyPost-COVID-19 Small Fiber Neuropathy as a New Emerging Quality of Life-Threatening Disease: A Systematic Review.
MicroorganismsEffect of platelet-rich plasma on angiogenic and regenerative properties in patients with critical limb ischemia.
Regenerative therapyGitelman syndrome presenting with lower limb paralysis: a case report.
Journal of medical case reportsUnraveling the Genetic Landscape of Foot Arch Morphology: A Systematic Review of Single Nucleotide Polymorphisms.
Clinical geneticsTransgenic mice with a global depletion of toll-like receptor type 4 are largely protected from peripheral and central posttraumatic neuroinflammation.
The journal of painNovel Case of Ipsilateral Supracondylar Fracture with Distal Radio-Ulna Fracture with Acute Compartment Syndrome: A Rare Case Report.
Journal of orthopaedic case reportsDeformity Correction and Limb Lengthening in Maffucci Syndrome - A Case Report.
Journal of orthopaedic case reportsS-design osteotomy and internal fixation for multiplanar and acute correction of deformity in infantile Blount's disease - preliminary results from single centre series.
International orthopaedicsA Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review.
Molecular syndromologyReconstructive 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 reportsAdult-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.
CureusInfective endocarditis causing acute aortic occlusion in a patient with systemic lupus erythematosus: A rare case report.
International journal of surgery case reportsHigh-Pressure Injection Injury of the Hand-A Rare but True Surgical Emergency.
Journal of clinical medicineDoes 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 surgeryThe 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 zhiAutoimmune Tubulopathies.
Journal of the American Society of Nephrology : JASNExploring Reverse Sural Flap Necrosis in Lupus-like Syndrome: Challenges and Strategies in Lower Limb Reconstruction-A Case Presentation.
Medicina (Kaunas, Lithuania)Vascular ultrasound diagnosis and clinical implications of aberrant anterior tibial artery: case report.
Jornal vascular brasileiroSuccessful surgical management of Leriche syndrome in a 30-year-old female patient: A rare case report.
International journal of surgery case reportsPrevalence of Complications Due to Transphyseal Hematogenous Osteomyelitis.
The Journal of bone and joint surgery. American volumeRotational osteotomy of forearm bones for treatment of congenital radioulnar synostosis in children.
Journal of orthopaedic surgery and researchInterventional Physiatry in the Complex Regional Pain Syndrome of the Upper Limb Following Herpes Zoster.
CureusAn Atypical Case of Miller Fisher Syndrome.
CureusLimb salvage in Christmas disease masquerading as fungating aneurysmal bone cyst.
BMJ case reportsAccuracy 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 medicineECEL1 mutation in distal arthrogryposis type 5D: A case report.
European journal of obstetrics, gynecology, and reproductive biology[Postoperative outcomes after simultaneous surgery for cervical radiculopathy combined with distal peripheral nerve compression].
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoYellow nail syndrome linked to a mediastinal lipoma: a case report.
Journal of medical case reportsIntraoperative Bone Cement Implantation Syndrome in a Pediatric Patient: A Case Report.
JBJS case connectorGenetically confirmed Charcot-Marie-Tooth disease type 2A manifesting with postural tremor: a case report.
Journal of medical case reportsDouble Crush Syndrome in the Lower Extremity: Simultaneous L5 Radiculopathy and Common Peroneal Nerve Compression.
World neurosurgeryIncidence and treatment of complex regional pain syndrome after surgery: analysis of claims data from Germany.
Pain reportsSuccessful surgical management of anterior cervical meningomyelocele associated with Klippel-Feil deformity using anterior vertebral reconstruction: a case report.
British journal of neurosurgeryBlue toe syndrome - systemic cholesterol crystal embolism secondary to cardiovascular procedures: a forensic autopsy report of two cases.
Forensic science, medicine, and pathologySurgical Considerations in the Management of Constriction Ring Syndrome.
The journal of hand surgery Asian-Pacific volumeLong-Term Surgical Success in Treating Vohwinkel Syndrome: A Case Report.
JBJS case connectorThe effectiveness of shoe modifications and foot orthoses in conservative treatment of lesser toe deformities: a review of literature.
Musculoskeletal surgeryPercutaneous decannulation of extracorporeal membrane oxygenation using MANTA device: A real-world single-center experience.
World journal of cardiologyEfficacy of REAC Neurobiological Optimization Treatments in Post-Polio Syndrome: A Manual Muscle Testing Evaluation.
Journal of personalized medicineEfficacy of Laser Acupuncture on Neurophysiological Parameters of Median Nerve and Hand Function in Postpartum Women: A Randomized Controlled Clinical Trial.
Photobiomodulation, photomedicine, and laser surgeryLower 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 myologyClinical-applied anatomy of the carpal tunnel regarding mini-invasive carpal tunnel release.
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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.
- Refractory Rickets: Evaluation and Management.
- Complex revision elbow arthroplasty for periprosthetic Holstein-Lewis fracture with delayed onset radial nerve entrapment after skydiving injury.
- Genome-wide meta-analysis identifies genetic risk loci for mono- and polyneuropathies in 983 477 individuals.
- When Foot Drop Tells a Bigger Story: POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Plasma Cell Disorder, and Skin Changes) Syndrome Revealed by Femoral Plasmacytoma.
- Safety and efficacy of a novel traction balloon technique for guide-extension advancement in complex coronary interventions: a case series.
- Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case.
- Torsional Malalignment Syndrome: The Hidden Role of Medial Tibial Slope in Knee Varus and the Potential of PETS Treatment for Correction.
- [Pisa syndrome with laterocollis associated with bilateral chronic subdural hematomas: a case report with reference to peripheral vestibular hypofunction].
- [Ring chromosome 21 syndrome: report of 2 cases].
- [A case of anti-synthetase syndrome: negative ELISA/immunoblot, but positive RNA immunoprecipitation with multiple antibodies].
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1307(Orphanet)
- OMIM OMIM:246560(OMIM)
- MONDO:0009525(MONDO)
- GARD:3252(GARD (NIH))
- Busca completa no PubMed(PubMed)
- 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
