Raras
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Síndrome de dimelia fibular-diplopodia
ORPHA:1757CID-10 · Q74.8DOENÇA RARA

A síndrome dimelia-diplopódio fibular é uma anomalia rara do desenvolvimento.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome dimelia-diplopódio fibular é uma anomalia rara do desenvolvimento.

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
11
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q74.8
🇧🇷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
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Características mais comuns

90%prev.
Tíbia ausente
Muito frequente (99-80%)
55%prev.
Teratoma sacrococcígeo
Frequente (79-30%)
55%prev.
Anormalidade da face
Frequente (79-30%)
3sintomas
Muito frequente (1)
Frequente (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 3 características clínicas mais associadas, ordenadas por frequência.

Tíbia ausenteAbsent tibia
Muito frequente (99-80%)90%
Teratoma sacrococcígeoSacrococcygeal teratoma
Frequente (79-30%)55%
Anormalidade da faceAbnormality of the face
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202444 papers
Linha do tempo
2026Hoje · 2026📈 2024Ano 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 dimelia fibular-diplopodia

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Trifurcation of the sciatic nerve. Short bifurcation of the common fibular nerve in the high gluteal region: a case study.

Folia morphologica2026

The sciatic nerve (SN) is the largest and longest peripheral nerve in the human body. Its anatomical course demonstrates considerable variability, particularly in its relationship with the piriformis muscle (PM). Several bifurcation patterns of the tibial nerve (TN) and common fibular nerve (CFN) have been described and classified into six types (I-VI) to facilitate their identification and prevalence assessment. The present study reports a newly observed and atypical variant of SN division, which, to our knowledge, has not been previously documented in the literature. During routine cadaveric dissection, an unusual configuration of the SN was identified on the left side. The TN passed inferior to the PM, whereas the CFN bifurcated into two distinct branches: a superior branch traversing the fibers of the PM, and an inferior branch accompanying the TN beneath the muscle. No such variation was found on the contralateral side. A comprehensive understanding of SN anatomical variations is crucial for improving the precision and outcomes of surgical procedures. Magnetic resonance imaging (MRI) can serve as a valuable tool in preoperative planning by delineating the course and morphology of the SN. Such knowledge aids in diagnosing piriformis syndrome (PS) and helps minimize postoperative neurological complications. Our research team is the first to describe this particular variant of SN bifurcation.

#2

Crucial anatomic ensemble of the lateral knee: the 'W' configuration.

Clinical radiology2026 Feb 13

To review the normal anatomy, imaging appearance, and associated pathologies of the 'W' configuration of the knee-formed by the biceps femoris tendon, fibular collateral ligament (FCL), anterolateral ligament (ALL), and iliotibial band (ITB)-and to highlight its value as an anatomical and imaging landmark in assessing lateral knee instability. A structured review of the posterolateral and anterolateral corners of the knee was performed, focusing on the 'W' configuration. Emphasis was placed on magnetic resonance imaging (MRI) assessment, particularly coronal and sagittal planes, to evaluate normal anatomical features and detect structural disruptions. The posterolateral and anterolateral corners form a complex stabilising framework, with the 'W' configuration serving as a key anatomical and imaging landmark. MRI is the primary diagnostic modality for visualising this configuration. Disruption of the 'W' pattern commonly indicates injury, including biceps femoris tendon tears, FCL ruptures, ALL injuries, ITB syndrome, and ITB ruptures, frequently associated with cruciate ligament tears. Isolated injuries are uncommon, with most cases involving multiligamentous trauma. Recognition of the 'W' configuration improves diagnostic accuracy in evaluating lateral knee injuries. While mild injuries may be managed conservatively, high-grade tears-particularly those involving the posterolateral corner or causing rotational instability-often require surgical repair. Understanding this anatomical framework supports appropriate treatment planning and optimises patient outcomes in lateral knee instability.

#3

Updated German National S1 Guideline on Pediatric Lower Leg Shaft Fractures.

Zeitschrift fur Orthopadie und Unfallchirurgie2026 Feb 26

Fractures of the diaphysis of the lower leg account for approximately 6% of all fractures in children and adolescents. A distinction must be made between isolated tibial shaft fractures, which are primarily managed conservatively, and combined lower leg shaft fractures (involving both the tibia and fibula). The latter are significantly less stable and therefore more frequently treated with osteosynthesis. If the fracture is non-displaced or tolerably displaced, immobilization in a long leg cast for about 4 weeks is sufficient. This requires that no secondary displacement occurs within the cast, which is why at least one follow-up X-ray after about 7-10 days is mandatory. In cases of instability, non-tolerable displacement, open fractures, or (impending) compartment syndrome, surgical treatment is indicated. The elastic stable intramedullary nailing (ESIN) technique is the standard procedure in these cases due to its low risk profile, broad applicability, minimally invasive approach, and good functional outcomes. After ESIN osteosynthesis, immobilization in a cast is not necessary. Other osteosynthesis methods, such as external fixation or plate osteosynthesis, are reserved for special cases like grade III open fractures, refractures, or comminuted fractures. The prognosis for tibial and lower leg shaft fractures in children is very good when conservative or surgical therapy is carried out correctly. Complications such as compartment syndrome, pseudarthrosis, or clinically relevant leg length discrepancies are rare. It is important to be familiar with the age-dependent tolerance limits for remodeling of the lower leg shaft, so that in the event of failure of conservative therapy, the indication for surgical treatment can be made in a timely manner and permanent malalignment of the lower leg with resulting abnormal loading of the knee and ankle joints can be avoided. An important and common special form is the so-called toddler's fracture, which occurs exclusively in early childhood. This involves a subtle, non-displaced spiral fracture or fissure of the tibial shaft, typically caused by a minor fall, often with a rotational component. These fractures can be easily missed on initial X-ray diagnostics. Immobilization for pain relief is sufficient, and follow-up radiological examinations are generally not necessary. Frakturen im Schaftbereich des Unterschenkels machen bei Kindern und Jugendlichen ca. 6% aller Frakturen aus. Es muss zwischen isolierten Tibiaschaftfrakturen, welche vorrangig eine Domäne der konservativen Therapie sind, und der kombinierten Unterschenkelschaftfraktur (Tibia und Fibula) unterschieden werden. Letztere ist deutlich instabiler und wird daher häufiger osteosynthetisch versorgt. Ist die Fraktur nicht oder tolerabel disloziert, so kann sie im Oberschenkelgips für ca. 4 Wochen ruhiggestellt und ausbehandelt werden. Voraussetzung ist, dass es im Verlauf zu keiner sekundären Dislokation im Gips kommt, weshalb mindestens eine Röntgenkontrolle nach ca. 7–10 Tagen obligat ist. Bei instabilen Verhältnissen, nicht tolerabel dislozierten oder offenen Frakturen, oder beim drohenden Kompartmentsyndrom, ist eine operative Therapie indiziert. Hierbei stellt die elastisch-stabile intramedulläre Nagelung (ESIN) aufgrund ihres geringen Risikoprofils, der breiten Anwendbarkeit, des minimalinvasiven Zugangs sowie der guten funktionellen Ergebnisse das Standardverfahren dar. Nach ESIN-Versorgung ist keine Ruhigstellung erforderlich. Weitere Osteosyntheseverfahren wie der Fixateur externe oder die Plattenosteosynthese sind Sonderformen wie drittgradig offenen Frakturen, Refrakturen oder Mehrfragmentfrakturen vorenthalten. Die Prognose der Tibia- und Unterschenkelschaftfrakturen bei Kindern ist bei korrekt durchgeführter konservativer oder operativer Therapie sehr gut. Komplikationen wie das Kompartmentsyndrom, Pseudarthrosen oder klinisch relevante Beinlängendifferenzen sind selten. Wichtig ist es, die altersabhängigen Toleranzgrenzen bezüglich des Remodelling am Unterschenkelschaft zu kennen, um bei Versagen der konservativen Therapie rechtzeitig die Indikation zur operativen Therapie zu stellen und so permanente Fehlstellungen des Unterschenkels mit damit einhergehenden Fehlbelastungen von Knie- und Sprunggelenk zu vermeiden.Eine wichtige und häufige Sonderform ist die die sog. Toddler-Fraktur, welche lediglich im Kleinkindalter auftritt. Hierbei handelt es sich um eine diskrete, nicht dislozierte Spiralfraktur oder -fissur des Tibiaschafts, welche durch einen banalen Sturz, meist mit Rotationskomponente, verursacht wird. In der initialen Röntgendiagnostik können diese Frakturen leicht übersehen werden. Eine Ruhigstellung zur Schmerztherapie ist ausreichend, radiologische Verlaufskontrollen sind in der Regel nicht notwendig.

#4

The Hidden Threat of Antacid Overuse: A Case of Severe, Slow-Burning Hypercalcemia (Serum Calcium of 22.8 mg/dl).

AACE endocrinology and diabetes2026

Severe hypercalcemia presents with significant symptoms and life-threatening systemic effects. This case report highlights a rare presentation of severe hypercalcemia due to milk-alkali syndrome (MAS) with surprisingly mild symptoms. A 44-year-old woman presented to the emergency department following a fall that occurred due to losing balance while attempting to pick up her medications that had fallen on the floor, resulting in right fibula fracture. She was incidentally found to have severe hypercalcemia with a serum calcium level of 22.8 mg/dL, despite having only mild symptoms such as brain fog and occasional nausea. Laboratory workup revealed acute kidney injury, metabolic alkalosis and a suppressed parathyroid hormone in the setting of excess intake of calcium carbonate tablets for uncontrolled gastroesophageal reflux disease. This, combined with the clinical and laboratory findings, led to a diagnosis of MAS. The patient was treated with aggressive intravenous fluid hydration and calcitonin, which rapidly improved her severe hypercalcemia. MAS is resurfacing as one of the leading causes of hypercalcemia. This resurgence is particularly relevant given the widespread use of calcium-alkali agents for management of osteoporosis, chronic kidney disease, and gastroesophageal reflux disease. The syndrome can present with mild or nonspecific symptoms which makes diagnosis challenging, especially in patients with complex comorbidities. Awareness of MAS is critical for timely identification and treatment. MAS should be considered a key differential diagnosis in patients with hypercalcemia. Early detection and intervention are essential to reverse metabolic disturbances and prevent potentially life-threatening outcomes. The calf (Latin: sura) denotes the posterior compartment of the lower leg. This region is characterized by a prominent muscular contour that tapers inferiorly toward the ankle. The calf overlies the posterior aspects of the tibia and fibula and lies in proximity to major neural and vascular structures, including the tibial and sural nerves, popliteal artery, and posterior tibial vein. The calf plays a central role in posture, locomotion, and forceful plantarflexion during gait. Dysfunction in the calf, whether from trauma, vascular compromise, or neuropathic injury, can result in impaired gait, muscle weakness, or chronic pain. Clinically, this region is significant for the assessment of compartment syndrome, evaluation of vascular status, and planning of surgical approaches. Detailed understanding of calf anatomy and function allows clinicians to diagnose conditions, such as deep vein thrombosis, muscle tears, and peripheral neuropathies, guide interventions like fasciotomy, tendon repair, or vascular access, and reduce the risk of iatrogenic injury to nerves and vessels.

#5

A Complex Case of Refractory Exertional Compartment Syndrome With Fibular Neuropathy in an Athlete.

Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine2026 Jan 29

Calf pain can result from various causes, including rare conditions such as common peroneal nerve entrapment (CPNE) and chronic exertional compartment syndrome (CECS), both requiring careful evaluation for accurate diagnosis. We present a rare case of leg pain caused by concurrent CPNE and CECS in a middle-aged recreational athlete with a history of bilateral popliteal fasciotomies. We hypothesized that fasciotomy scar tissue decreased compartmental mechanical compliance, transiently increasing intracompartmental pressure. Ultrasound imaging and electrodiagnostic testing confirmed bilateral common peroneal neuropathies. After bilateral peroneal nerve decompression, the patient's left leg pain resolved, but he continued to experience residual right calf pain. A selective motor tibial nerve block with hydrodissection provided temporary symptom relief, leading to a diagnosis of CECS. This case underscores the complexity of leg pain in athletes, arising from two concomitant conditions, and demonstrates the use of a selective motor block as a diagnostic tool for CECS.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 198

2026

Trifurcation of the sciatic nerve. Short bifurcation of the common fibular nerve in the high gluteal region: a case study.

Folia morphologica
2026

Crucial anatomic ensemble of the lateral knee: the 'W' configuration.

Clinical radiology
2026

Updated German National S1 Guideline on Pediatric Lower Leg Shaft Fractures.

Zeitschrift fur Orthopadie und Unfallchirurgie
2026

The Hidden Threat of Antacid Overuse: A Case of Severe, Slow-Burning Hypercalcemia (Serum Calcium of 22.8 mg/dl).

AACE endocrinology and diabetes
2026

A Complex Case of Refractory Exertional Compartment Syndrome With Fibular Neuropathy in an Athlete.

Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine
2025

Navigating the Crisis of White Cord Syndrome in a Diabetic Female Patient After Cervical Spine Surgery: A Case Report.

Cureus
2026

Amniotic Band Syndrome Presenting with Pseudoarthrosis of the Tibia: A Case Report.

JBJS case connector
2025

Inferior Gluteal Nerve Originating From the Common Fibular Nerve: A Histologically Validated Anatomical Variant With Clinical Implications.

Cureus
2025

Bathrocephaly and Serpentine Fibula as Underrated Features of Osteogenesis Imperfecta Type I: A Case Report.

Molecular syndromology
2025

Marin-Amat Syndrome: A Case Report of a Rare Facial Synkinesis Following Traumatic Facial Nerve Injury.

Bulletin of emergency and trauma
2025

Peroneal Nerve Palsy After a Minimally Displaced Weber B Fibula Fracture: A Rare Case of Extensor Retinaculum Syndrome.

Foot &amp; ankle orthopaedics
2025

Core decompression combined with allogeneic fibular grafting for refractory transient osteoporosis of the hip: a case report and literature review.

BMC surgery
2025

Cross-union surgery for tibiofibular fractures in McCune-Albright syndrome: a case report and literature review.

Frontiers in pediatrics
2025

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

JBJS essential surgical techniques
2025

Dynamic Multi-organ Dysfunction After Trauma with Secondary Sepsis in Rats: A 6-72 hours Temporal Map Validated by Rodent-Specific MODS Scoring.

Shock (Augusta, Ga.)
2025

First case report of a unique combination of congenital limb and skeletal anomalies mimicking VACTERL and Gollop-Wolfgang syndromes.

International journal of surgery case reports
2025

Ultrasound-Guided Nerve Hydrodissection for Peripheral Entrapment Neuropathies.

Muscle &amp; nerve
2025

Genetics, epidemiology and management of clubfoot and related disorders.

Genes &amp; diseases
2025

Double Crush Syndrome of the L5 Nerve Root and Common Peroneal Nerve at the Fibular Head: A Case Series and Review of the Literature.

Journal of clinical medicine
2025

Common peroneal neuropathy due to an anatomical variant course of the fibular nerve in a patient with an accessory gastrocnemius tertius muscle.

Skeletal radiology
2025

Lower Extremity Nerve Decompression to Treat Complex Regional Pain Syndrome: A Case Report in Pediatric Age Group.

Microsurgery
2025

Recovery and Protective Effect of Direct Transcutaneous Electrical Nerve Stimulation in the Treatment of Acute and Subacute Fibular Tunnel Syndrome.

Journal of clinical medicine
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

The Fetus Points to the Diagnosis of Rare Skeletal Dysplasia: Stuve-wiedemann Syndrome: Retrospective Case Series and Prenatal Review.

Journal of medical ultrasound
2025

[Arthroscopy in the treatment of acute and chronic syndesmotic injuries of the ankle joint].

Operative Orthopadie und Traumatologie
2025

Subclinical hypothyroidism, focusing on carpal tunnel syndrome and peroneal neuropathy at the fibular head: a prospective case-control study.

Sao Paulo medical journal = Revista paulista de medicina
2025

Incidence of Unapparent Preoperative Deep Vein Thrombosis in Patients with Traumatic Intraarticular Tibial Plateau Fracture.

Journal of clinical medicine
2025

The prevalence, morphology and topography of fabella in knee joints in the polish population and its association with size of patella.

Surgical and radiologic anatomy : SRA
2025

Acute compartment syndrome and its predictors among patients with tibia fracture in Uganda: a multicenter prospective cohort study.

BMC musculoskeletal disorders
2024

Snapping Biceps Femoris Repair: A Rare Cause of Lateral Knee Pain.

Video journal of sports medicine
2025

Associations between pathophysiological traits and symptom development in retrospective analysis of V30M and V122I transthyretin amyloidosis.

International journal of cardiology. Heart &amp; vasculature
2025

Concurrent multiple odontogenic keratocysts and odontogenic myxoma in a patient with nevoid basal cell carcinoma: a case report and literature review.

Oral surgery, oral medicine, oral pathology and oral radiology
2025

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

Birth defects research
2025

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

The Journal of the Association of Physicians of India
2025

Isolated Fibula Fracture With Development of Acute Compartment Syndrome.

Journal of the American Academy of Orthopaedic Surgeons. Global research &amp; reviews
2025

Complete Recovery From Acute Peroneal Nerve Palsy With Neurapraxia After Prolonged Cross-Legged Sitting: Successful Conservative Management of a Foot Drop and a Brief Review of the Literature.

Cureus
2025

A case of congenital fibular hemimelia associated with skeletal and non-skeletal malformations.

BJR case reports
2025

Severe Osteoporosis in an Adult Subject with RNU4-2 Gene Mutation.

Calcified tissue international
2025

Factors Associated With Claw Toe Deformity Following Vascularized Fibula Flap Harvesting: A Retrospective Analysis of Potential Risk Factors and Preventive Strategies.

Microsurgery
2025

Burosumab Treatment in a Girl With Cutaneous Skeletal Hypophosphatemia Syndrome: 2-Year Follow-Up.

American journal of medical genetics. Part A
2025

Spinal Cord Infarction Presenting with Abnormal F Waves.

The Neurodiagnostic journal
2025

Foot and Ankle Complications after Tibial and Fibular Shaft Fractures.

Foot and ankle clinics
2025

Knee intra-articular loose body causing a compression common peroneal nerve neuropathy with foot drop.

BMJ case reports
2025

Don't Sleep on Sleep: A Clinical CASE Report From a Division I Heptathlete.

Journal of athletic training
2024

Prevalence of Complications Due to Transphyseal Hematogenous Osteomyelitis.

The Journal of bone and joint surgery. American volume
2025

[A case of anti-ganglioside antibody-positive Guillain-Barré syndrome with asymmetrical muscle weakness throughout the course of the disease].

Rinsho shinkeigaku = Clinical neurology
2024

An Osteopathic Approach to Foot Drop: A Case Report of Posterior Fibular Head.

Cureus
2024

Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies.

Diagnostics (Basel, Switzerland)
2025

Ultrasound as a Complementary Tool to Electrodiagnostics in the Evaluation of Compressive Neuropathy of the Common Fibular Nerve.

HSS journal : the musculoskeletal journal of Hospital for Special Surgery
2025

Complete foot drop due to atypical peroneal ganglion in a 13 ½ year old boy.

Neuro-Chirurgie
2024

Deep peroneal neuropathy induced by prolonged squatting: a case report.

Frontiers in neuroanatomy
2024

Is the phoenix sign phenomenon due to vasodilation? A double-blinded, randomized controlled trial comparing motor function recovery after diagnostic common fibular nerve block with lidocaine and papaverine.

BMC musculoskeletal disorders
2024

Snapping Biceps Femoris Syndrome: A Case Presentation and Review of Current Literature.

Cureus
2025

Soleus Muscle Necrosis Following Harvest of Fibula Free Flap: A Case Report and Retrospective Contrast CT Analysis.

The Laryngoscope
2024

Congenital Pseudoarthrosis of the Femur Managed with Masquelet Technique.

Journal of orthopaedic case reports
2024

Late Donor-Site Complications Following Free Fibular Flap Harvest: A Report of a Rare Case.

Cureus
2024

[Fasciocutaneous bridge flap to cover defects on the lower leg after compartment syndrome with a complication-prone course : An "almost" forgotten safe flap procedure].

Unfallchirurgie (Heidelberg, Germany)
2024

Unravelling a hidden pathology of a vertebral fracture in a teenage girl.

BMC endocrine disorders
2024

The First Patient with Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome Caused by De Novo c.423+4916 T>C ZRS Variant: A Case Report.

International journal of molecular sciences
2024

A Case of Fibular Aplasia-Tibial Campomelia-Oligosyndactyly (FATCO) Syndrome Associated With Split Hand/Foot Syndrome With Long Bone Deficiency (SHFLD) and Review of the Literature.

Cureus
2024

Non-syndromic phocomelia: A rare case report signifying prenatal screening.

SAGE open medical case reports
2024

Central Tetrapolydactyly With Atrial Septal Defect and Facial Nerve Palsy in a 15-Month-Old Female Child.

Cureus
2024

Successful closed reduction of Bosworth ankle fracture-dislocation: A case report.

Trauma case reports
2024

Unravelling the Anatomy of the Anterior Tarsal Tunnel and Its Clinical Implications.

Cureus
2024

Extensor Retinaculum Syndrome of the Ankle: An Adult Case Series.

Foot &amp; ankle orthopaedics
2024

Tissue material properties, whole-bone morphology and mechanical behavior in the Fbn1 C1041G/+ mouse model of Marfan syndrome.

Matrix biology plus
2024

Neglected Bilateral Clubfoot Clubhand Deformity.

Journal of orthopaedic case reports
2024

[Finite element analysis of the impact of bone mass and volume of low-density area under tibial plateau on lower limb alignment].

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery
2024

Case Report: Halting terminal osseous overgrowth post tibia amputation in children: a report of three cases.

Frontiers in surgery
2024

Bosworth ankle fracture-dislocation: current concept review.

EFORT open reviews
2024

Insights into digit evolution from a fate map study of the forearm using Chameleon, a new transgenic chicken line.

Development (Cambridge, England)
2024

A rare Bosworth Variant Isolated Distal Fibula Dislocation with a Successful Closed Reduction: A Case Report and Technique.

Journal of orthopaedic case reports
2024

Intramedullary nailing for floating knee injury complicated by pulmonary fat embolism: A case report and literature review.

Trauma case reports
2024

Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).

European journal of medical genetics
2024

The role of imaging in focal neuropathies.

Handbook of clinical neurology
2024

Sciatic and tibial neuropathies.

Handbook of clinical neurology
2024

An unusual cause of febrile knee pain in children: Septic arthritis of the proximal tibiofibular joint (a case report).

International journal of surgery case reports
2024

Electrophysiological Screening to Assess Foot Drop Syndrome in Severe Acquired Brain Injury in Rehabilitative Settings.

Biomedicines
2024

Jaffe-Campanacci syndrome resulted in amputation: A case report.

World journal of clinical cases
2024

Delayed Presentation of Acute Compartment Syndrome After Isolated Closed Fibular Shaft Fracture: A Case Report.

Cureus
2024

Pediatric Acute Compartment Syndrome in Long Bone Fractures: Who is at Risk?

The Journal of surgical research
2024

Percutaneous Needle Decompression: A Novel Approach Toward Treating Compartment Syndrome of the Leg.

Cureus
2024

[Rare nerve compression neuropathies].

Handchirurgie, Mikrochirurgie, plastische Chirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Handchirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Mikrochirurgie der Peripheren Nerven und Gefasse : Organ der V...
2024

Automated personalization of biomechanical knee model.

International journal of computer assisted radiology and surgery
2023

Bosworth ankle dislocation fracture - current concept review.

Rozhledy v chirurgii : mesicnik Ceskoslovenske chirurgicke spolecnosti
2024

Soft-tissue, non-osteogenic distraction of the mandible and lower face in bilateral hemifacial microsomia-technical report.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2024

Pachydysostosis of the fibula in a case of familial adenomatous polyposis.

European journal of medical genetics
2023

A retrospective review of the management and outcomes of patients diagnosed with complex regional pain syndrome type II using electrodiagnostic findings.

Canadian journal of pain = Revue canadienne de la douleur
2024

3D-CT measurements of facial symmetry in severe CFM patients: A comparative study between mandibular ascending ramus distraction osteogenesis and bone grafting.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2024

Isolated Extensor Hallucis Longus Compartment Syndrome: A Case Report.

Cureus
2023

Fibula allograft transplantation combined with locking plate for treatment of recurrent monostotic fibular fibrous dysplasia: A case report.

World journal of clinical cases
2023

Giant Mandibular Ameloblastoma with Rare Hypercalcemia: A Case Report and Literature Review.

Medicina (Kaunas, Lithuania)
2023

Diagnostic Approach to Lower Limb Entrapment Neuropathies: A Narrative Literature Review.

Diagnostics (Basel, Switzerland)
2022

Chronic Exertional Compartment Syndrome of the Lower Extremity: Diagnosis and Surgical Treatment.

JBJS essential surgical techniques
2023

Biceps femoris accessory tendon tenodesis: A case report.

Clinical case reports
2023

Miserable malalignment syndrome associated knee pain: a case for infra-tubercle tibial de-rotation osteotomy using an external fixator.

Journal of orthopaedic surgery and research
2023

Compartments of the crural fascia: clinically relevant ultrasound, anatomical and histological findings.

Surgical and radiologic anatomy : SRA
2023

Classic and rare manifestations of multiple osteoma: A case report.

International journal of surgery case reports
2023

Donor-Site Complication of Severe Valgus Ankle Deformity in an Adult With Ehlers-Danlos Syndrome Following Free Vascularized Fibular Grafting.

Cureus
2023

Analysis of outcome reporting in common peroneal neuropathy studies: a systematic review of the literature.

Acta neurochirurgica
2024

The impact of fasciotomy on inpatient outcomes in lower leg fracture management.

European journal of orthopaedic surgery &amp; traumatology : orthopedie traumatologie
2023

Donor-site morbidity of free fibula flap in pediatric patients: A systematic review and meta-analysis.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2023

A Rare Case of Melorheostosis Presenting with Extra-osseous Lesions Around the Knee: Case Report.

Journal of orthopaedic case reports
2023

NOTCH2 related disorders: Description and review of the fetal presentation.

European journal of medical genetics
2023

Nerve Ultrasound Score in Chronic Inflammatory Demyelinating Polyneuropathy.

Medicina (Kaunas, Lithuania)
2023

Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome.

Molecular syndromology
2022

Bosworth Ankle Injuries - Treatment Challenges in Late and Neglected Presentations.

Journal of orthopaedic case reports
2024

Clinical and Electrophysiological Characteristics of Very Early Guillain-Barré Syndrome.

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society
2023

Foot Oligodactyly as the Main Dysplasia in Children.

Cureus
2023

Cerebral Fat Embolism Syndrome in a Patient With an Aortic Dissection and Orthopedic Injuries: A Case Report.

Cureus
2023

Release-reinsertion of the biceps femoris tendon onto the fibula in biceps femoris impingement on the knee with or without snap.

Orthopaedics &amp; traumatology, surgery &amp; research : OTSR
2022

Physiotherapy Rehabilitation in an Above-Knee Amputee Following Compartment Syndrome in Post-tibial Plateau Fracture: A Case Report.

Cureus
2022

Hindfoot Endoscopy for the Treatment of Localized Pigmented Villonodular Synovitis.

Journal of orthopaedic case reports
2023

Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.

American journal of medical genetics. Part A
2022

A Case Series of Bosworth Fracture-Dislocations and Review of 129 Reported Cases.

Malaysian orthopaedic journal
2022

Symptomatic accessory soleus muscle: A cause for exertional compartment syndrome in a young soldier: A case report.

World journal of clinical cases
2022

Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes.

Neuromuscular disorders : NMD
2023

Predictors of acute compartment syndrome in patients with tibial fractures: a meta-analysis.

International orthopaedics
2023

Unusual entrapment symptomatology treated in 115 cases by neurolysis of the common fibular nerve at the fibular head combined with neurolysis of the posterior tibial nerve at the tarsal tunnel.

Orthopaedics &amp; traumatology, surgery &amp; research : OTSR
2022

Intramedullary Nailing of Concurrent Bilateral Tibial Stress Fractures Followed by Unilateral Tension Plating for a Nonunion in a Vitamin D-Deficient Elite Football Player.

Cureus
2022

MRI Bone Abnormality of the Knee following Ultrasound Therapy: Case Report and Short Review.

International journal of environmental research and public health
2022

Branching patterns of the superficial fibular nerve: an anatomical study with meta-analysis.

Surgical and radiologic anatomy : SRA
2022

Role of electromyography and ultrasonography in the diagnosis of double crush lumbar radiculopathy and common fibular injury: illustrative cases.

Journal of neurosurgery. Case lessons
2022

Treatment of Symptomatic Subfibular Ossicle by Excision and Modified Broström Procedure for Skeletally Immature Patients.

Foot &amp; ankle international
2022

Simultaneous bilateral floating knee: A case report.

World journal of clinical cases
2022

Laurin-Sandrow Syndrome: A Case Report and Review of Literature.

The journal of hand surgery Asian-Pacific volume
2022

SARS-CoV-2 gamma variant and chronic arterial insufficiency due to late arterial thrombosis.

International journal of health sciences
2022

Jaw-in-a-Riley-Day: Mandibular Free Flap Reconstruction With Virtual Surgical Planning in a Patient With Familial Dysautonomia.

Cureus
2021

Surgical treatment of common peroneal neuropathy in schwannomatosis: illustrative cases.

Journal of neurosurgery. Case lessons
2022

Metastatic Malignant Phosphaturic Mesenchymal Tumor of Mandibular Alveolus: a Rare Case Report and Review of Literature.

Indian journal of surgical oncology
2022

Traumatic biceps femoris tendon subluxation in a young football player.

Orthopedic reviews
2022

Concurrent intraventricular intracranial myxoid mesenchymal tumor and ependymoma in a long-term Ewing sarcoma survivor.

Neuropathology : official journal of the Japanese Society of Neuropathology
2022

A case report on fibular aplasia, tibial campomelia, oligosyndactyly syndrome variant in a male infant.

JPMA. The Journal of the Pakistan Medical Association
2022

Electrodiagnostic subtyping in Guillain-Barré syndrome: Use of criteria in practice based on a survey study in IGOS.

Journal of the peripheral nervous system : JPNS
2022

Case Report: A Novel Homozygous Frameshift Mutation of the SKIV2L Gene in a Trichohepatoenteric Syndrome Patient Presenting With Short Stature, Premature Ovarian Failure, and Osteoporosis.

Frontiers in genetics
2022

Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation.

American journal of medical genetics. Part A
2022

Managing Osteopetrosis in the Complex Polytrauma Orthopedic Patient.

Cureus
2022

"Laurin-Sandrow Syndrome - a review of the literature and classification system".

Clinical dysmorphology
2022

Newborn Male With Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome: A New Case Report Putting the Condition Under Spotlight.

Cureus
2023

Case report of the double-headed extensor hallucis longus.

Folia morphologica
2022

Biceps femoris snapping and friction on the fibular head secondary to abnormal distal tendon insertion: 15 cases and a literature review.

Orthopaedics &amp; traumatology, surgery &amp; research : OTSR
2023

Higher preoperative range of motion is predictive of good mid-term results in the surgical management of osteochondral lesions of the talus: a prospective multicentric study.

Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA
2022

Childhood focal compressive mononeuropathies during the COVID-19 pandemic in Buenos Aires, Argentina.

Muscle &amp; nerve
2021

Prenatal ultrasonographic findings in Klippel-Trenaunay syndrome: A case report.

World journal of clinical cases
2021

"Fixator-assisted Nailing" Technique for Closed Segmental Tibia Shaft Fracture with Extensive Soft Tissue Injury - A Case Report.

Journal of orthopaedic case reports
2021

Fibular Hypoplasia, Talar Aplasia, Absent Proximal Tibial Growth Plate and Oligosyndactyly (Variant of Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome) - Paucity of Case Reports with Evolving Definition.

Journal of orthopaedic case reports
2021

Two Cases of Impaired Wound Healing Among Patients With Major Head and Neck Free-Flap Reconstruction in the Setting of COVID-19 Infection.

Cureus
2021

Triathlete with Multiple Stress Fractures in the Lower Limbs: Case Report and Literature Review.

Revista brasileira de ortopedia
2021

Is It Compartment Syndrome? Two Case Reports and Literature Review.

Cureus
2021

Three-dimensional navigation in maxillofacial surgery - the way to minimize surgical stress and improve accuracy in fibula free flap and Eagles syndrome surgical procedures.

Acta chirurgiae plasticae
2022

iMAX: A new tool for assessment of motor axon excitability. A multicenter prospective study.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2022

Improved symptoms of complex regional pain syndrome after novel lymphatic treatment and interdisciplinary pain management.

Complementary therapies in clinical practice
2021

Case Report: Bilateral Epiphysiodesis Due to Extreme Tall Stature in a Girl With a De Novo DNMT3A Variant Associated With Tatton-Brown-Rahman Syndrome.

Frontiers in endocrinology
2021

Varied Presentation and Importance of MR Neurography of the Common Fibular Nerve in Slimmer's Paralysis.

Case reports in neurology
2021

Electrodiagnosis of Common Mononeuropathies: Median, Ulnar, and Fibular (Peroneal) Neuropathies.

Neurologic clinics
2021

Unusual bilateral variation of the flexor digitorum accessorius longus muscle and its relation on tarsal tunnel syndrome.

Surgical and radiologic anatomy : SRA
2021

Case 294: Catastrophic Antiphospholipid Syndrome.

Radiology
2021

Compartment Syndrome Secondary to Knee Lipohemarthrosis.

Cureus
2021

Fabella Syndrome and Common Peroneal Neuropathy following Total Knee Arthroplasty.

Case reports in orthopedics
2021

Femoral Neck Over-Resection After Hip Arthroscopy Treated with Vascularized Fibula Autograft: A Case Report.

JBJS case connector
2021

Simultaneous open fracture and rattlesnake bite on the same extremity.

Proceedings (Baylor University. Medical Center)
2022

Tibial Shaft and Pilon Fractures With Associated Syndesmotic Injury: A Matched Cohort Assessment.

Journal of orthopaedic trauma
2021

A Shepherd's Crook Deformity of Proximal Femur Treated by Valgus Osteotomy and Bone Grafting.

Cureus
2021

Early Opiate Analgesic Requirements Following Nonsurgically Managed Tibial Fractures in Children.

Journal of pediatric orthopedics
2021

Quantitative analysis of intermuscular septa in the leg: implications for trauma surgery.

Trauma surgery &amp; acute care open
2021

Pediatric Mandibular Reconstruction Using the Vascularized Fibula Free Flap: Functional Outcomes in 34 Consecutive Patients.

Annals of plastic surgery
2021

A Case Report of Osteomyelitis of Lower End of Tibia and Fibula as a Complication of Elastic Rubber Band Syndrome (Dhaga Syndrome).

Journal of orthopaedic case reports
2021

Circumflex Accessory Branch of the Superficial Fibular Nerve: An Unusual Cause of Nerve Entrapment.

Journal of the American Podiatric Medical Association
2021

MRI of lateral hindfoot impingement.

Diagnostic and interventional radiology (Ankara, Turkey)
2021

COVID-19 Proned Ventilation and Its Possible Association With Foot Drop: A Case Series.

Cureus
2022

Location of motor branches of tibialis posterior muscle and its relation in treatment of spastic equinovarus foot: a cadaveric study.

Brazilian journal of anesthesiology (Elsevier)
2020

Acute leg compartment syndrome after CT-guided core needle biopsy of a giant cell tumor of the proximal fibula.

Acta orthopaedica Belgica
2021

Distally Based Pedicled Fibula Flap for Reconstruction of Infected Charcot's Midtarsal Collapse-Diabetic Rocker Bottom Foot.

Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India
2021

Cross-sectional area reference values for peripheral nerve ultrasound in adults: A systematic review and meta-analysis-Part II: Lower extremity nerves.

European journal of neurology
2021

Multiple Osteochondromas Comorbid With Enlarged Parietal Foramina, Elongated Styloid Processes, and Tibiofibular Synostosis.

American journal of clinical pathology
2021

May-Thurner syndrome, a diagnosis to consider in young males with no risk factors: a case report and review of the literature.

Journal of medical case reports
2021

Endoscopic lateral decompression of calcaneo-fibular impingement: Case Report and literature Review.

International journal of surgery case reports
2021

The "Texas Longhorn" Syndrome: A Case of Posterior Interosseous Nerve Palsy With Noteworthy Observations.

Cureus
2021

Prenatal differential diagnosis of fibular agenesis, tibial campomelia and oligosyndactyly.

Clinical dysmorphology
2022

Bosworth fracture complicated by unrecognized compartment syndrome: a case report and review of the literature.

Archives of orthopaedic and trauma surgery
2021

Utility of laboratory markers in evaluating for acute compartment syndrome in the emergency department.

Journal of the American College of Emergency Physicians open
2021

Postoperative complications of concomitant fat embolism syndrome, pulmonary embolism and tympanic membrane perforation after tibiofibular fracture: A case report.

World journal of clinical cases
2021

Complication After Mandibular Reconstruction With Fibula Free Flap in a Patient With Hemifacial Microsomia.

The Journal of craniofacial surgery
2021

Prenatal diagnosis of fibular aplasia-tibial campomelia-oligosyndactyly syndrome: Two case reports and review of the literature.

Journal of clinical ultrasound : JCU
2020

Outcomes following Microvascular Mandibular Reconstruction in Pediatric Patients and Young Adults.

Plastic and reconstructive surgery. Global open
2020

Electrodiagnostic Testing of Entrapment Neuropathies: A Review of Existing Guidelines.

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society
2020

Dual-incision minimally invasive fasciotomy of the anterior and peroneal compartments for chronic exertional compartment syndrome of the lower leg.

Scientific reports
2021

Menisco-fibular ligament - an overview: cadaveric dissection, clinical and magnetic resonance imaging diagnosis, arthroscopic visualisation and treatment.

Folia morphologica
2020

Prenatal Diagnosis of FATCO Syndrome (Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly) with 2D/3D Ultrasonography.

Ultrasound international open
2021

Ultrasound Imaging of the Deep Peroneal Nerve.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2020

Spontaneous intraneural hematoma of the common fibular nerve due to oral anticoagulation.

Journal of surgical case reports
2020

Critical Finding of Wellens' Syndrome in a Patient who Presented With a Fibular Fracture.

Cureus
2020

Coexistence of Brachial Plexus-Anterior Scalene and Sciatic Nerve-Piriformis Variants.

Cureus
2020

Tall stature in children and adolescents.

Minerva pediatrica
2020

Current concepts in the management Radial Longitudinal Deficiency.

Journal of clinical orthopaedics and trauma
2021

Posteroinferior tibiofibular ligament - A cadaveric study.

Foot and ankle surgery : official journal of the European Society of Foot and Ankle Surgeons
2020

Parathyroid carcinoma in a 13-year-old girl with a long-term survival.

Surgical case reports
2020

Intercalary bone graft of the tibia: case series and review of the literature.

European journal of orthopaedic surgery &amp; traumatology : orthopedie traumatologie

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Doenças relacionadas

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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.

  1. Trifurcation of the sciatic nerve. Short bifurcation of the common fibular nerve in the high gluteal region: a case study.
    Folia morphologica· 2026· PMID 41874222mais citado
  2. Crucial anatomic ensemble of the lateral knee: the 'W' configuration.
    Clinical radiology· 2026· PMID 41814107mais citado
  3. Updated German National S1 Guideline on Pediatric Lower Leg Shaft Fractures.
    Zeitschrift fur Orthopadie und Unfallchirurgie· 2026· PMID 41748091mais citado
  4. The Hidden Threat of Antacid Overuse: A Case of Severe, Slow-Burning Hypercalcemia (Serum Calcium of 22.8 mg/dl).
    AACE endocrinology and diabetes· 2026· PMID 41641300mais citado
  5. A Complex Case of Refractory Exertional Compartment Syndrome With Fibular Neuropathy in an Athlete.
    Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine· 2026· PMID 41606779mais citado
  6. Miserable malalignment syndrome associated knee pain: a case for infra-tubercle tibial de-rotation osteotomy using an external fixator.
    J Orthop Surg Res· 2023· PMID 37817247recente
  7. Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.
    Am J Med Genet A· 2023· PMID 36610046recente
  8. Laurin-Sandrow Syndrome: A Case Report and Review of Literature.
    J Hand Surg Asian Pac Vol· 2022· PMID 35965362recente
  9. A case report on fibular aplasia, tibial campomelia, oligosyndactyly syndrome variant in a male infant.
    J Pak Med Assoc· 2022· PMID 35713069recente
  10. Case Report: Bilateral Epiphysiodesis Due to Extreme Tall Stature in a Girl With a De Novo DNMT3A Variant Associated With Tatton-Brown-Rahman Syndrome.
    Front Endocrinol (Lausanne)· 2021· PMID 34721301recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1757(Orphanet)
  2. MONDO:0015773(MONDO)
  3. GARD:18746(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55785707(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 dimelia fibular-diplopodia
Compêndio · Raras BR

Síndrome de dimelia fibular-diplopodia

ORPHA:1757 · MONDO:0015773
Prevalência
<1 / 1 000 000
Casos
11 casos conhecidos
Herança
Not applicable
CID-10
Q74.8 · Outras malformações congênitas especificadas de membro(s)
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4303758
Wikidata
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