Raras
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Ausência isolada do antebraço e mão
ORPHA:294979CID-10 · Q71.2CID-11 · LB99.5DOENÇA RARA

Os nomes taxonômicos criados recentemente na Nomeclatura biológica frequentemente refletem os interesses do descobridor ou homenageiam aqueles que o descobridor estima, incluindo elementos fictícios.

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Introdução

O que você precisa saber de cara

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Ausência congênita bilateral do antebraço e mão, com preservação dos braços. Afeta a função motora e a preensão.

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SUS: Cobertura mínimaScore: 15%
CID-10: Q71.2
🇧🇷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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa11
Últimos 10 anos12publicações
Pico20243 papers
Linha do tempo
20202015Hoje · 2026📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

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Nenhum gene associado encontrado

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Diagnóstico

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Tratamento e manejo

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Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Ausência isolada do antebraço e mão

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Wound infection caused by Staphylococcus arlettae: a case report and metal characterization.

Frontiers in cellular and infection microbiology2026

Retained metallic foreign bodies can lead to implant-associated wound infections through bacterial colonization and biofilm formation. We report a case of a wound infection associated with a retained metallic fragment caused by Staphylococcus arlettae (S. arlettae) and evaluate the organism's early biofilm formation on common implant metals. A 33-year-old man sustained a crush injury to his right hand and forearm, resulting in extensive soft-tissue damage and vascular injury. Emergency surgical management included meticulous debridement and vascular reconstruction. Postoperatively, purulent wound infection was effectively managed following microbiological identification of S. arlettae and antibiotic susceptibility-guided therapy. The treatment regimen involved serial debridement along with stepwise adjustments in antimicrobial dosing. Follow-up revealed that the patient's hand function had recovered well. In vitro assays were conducted to compare early bacterial attachment and biofilm formation of the clinical S. arlettae isolate on stainless steel 304 (SS304), stainless steel 316 (SS316), and titanium alloy (TC4). The results revealed material-dependent differences in initial adherence as well as early biofilm development, establishing a link between implant surface properties and bacterial colonization propensity. This case underscores the clinical significance of retained metallic fragments as potential foci for S. arlettae infection, emphasizing the necessity for prompt debridement, targeted antimicrobial therapy, and consideration of implant material properties. In vitro evidence demonstrating differential biofilm behavior on SS304, SS316, and TC4 has important implications for surgical decision-making, selection of implants, management of wounds, and prophylactic antibiotic strategies aimed at mitigating implant-associated infections.

#2

"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 reports2025 Dec

Radial club hand is a rare congenital condition (1 in 100,000) involving varying deformities on the radial side of the forearm, ranging from thumb underdevelopment to absence of the radius and related structures. It can be isolated or part of syndromes, such as thrombocytopenia-absent radius, Holt-Oram, or vertebral, anal, cardiac, tracheo-esophageal, renal, limb, and is bilateral in 50-72% of cases. A 12-year-old right-handed girl presented with an isolated, non-syndromic right radial club hand and flexion deformity at the wrist and elbow, without functional impairment. Her pathology did not fit existing Bayne and Klug or Heikel classifications, as her proximal radius was absent but the distal epiphysis and wrist were developed. A corrective wedge osteotomy with bilobed skin flaps was performed to realign the forearm. No intervention was made at the wrist or musculotendinous units, resulting in an acceptable outcome. Reasonable outcome could be obtained in a rare case of complex congenital anomaly like radial club hand following a minimalist approach of wedge osteotomy alone to correct the forearm deformity.

#3

Distal ulnar neck fracture displacement with forearm rotation: A biomechanical cadaveric study.

Journal of hand and microsurgery2025 Jul

Management of distal ulnar fractures remains controversial, partly due to its low incidence and operative challenges encountered during surgical fixation. This cadaveric study examined fracture displacement in isolated distal ulnar fractures, specifically AO Muller Q2 and Biyani Type I fracture pattern, during forearm pronosupination.6 fresh frozen cadaveric upper limbs amputated at mid-humerus were used. Soft tissues including proximal and distal radioulnar joints were carefully preserved. Specimens were inspected grossly and radiographically for absence of pathologies. Radiocarpal and midcarpal pinning was performed to facilitate quantification of forearm rotation. 2 markers were each placed proximal and distal to fracture site to quantify fracture displacement. 3-dimensional positional data was recorded using an optoelectronic system (Vicon MX motion capture system).Distance between the 2 markers increased in the proximodistal and radioulnar axis, and decreased in the dorsovolar axis when the forearm was rotated from neutral to 100° pronation. The inverse was observed during supination. Mean aggregate fracture site displacement increased to 9.17 ± 2.78 mm at 100° pronation. Statistically significant increase in aggregate fracture site displacement was observed from 60° pronation onwards. At 100° supination, the aggregate fracture site displacement was 4.58 ± 8.62 mm. When supinating from neutral to 100°, fracture displacement did not increase significantly. from this study suggest that distal ulnar fractures are potentially stable, particularly in supination. However, unrestricted forearm pronation with inadequate immobilisation might still cause further fracture displacement. Further studies are required to assess distal ulnar fracture stability in vivo before treatment guidelines can be established.

#4

A shrapnel migration from a peripheral vein to the right ventricle: case report.

European heart journal. Case reports2024 Sep

Foreign bodies that migrate into the heart may include medical devices dislodged from their original location or, rarely, external particles (shrapnel and other foreign bodies) that penetrate the vein, remain intraluminal, and migrate via the venous blood flow to the right heart. Most reported entry sites of these external foreign bodies were in the torso, thigh, or neck; none of them penetrated through a distal extremity of the body. We report a case where shrapnel was found in the right ventricle (RV) following penetrating injury to the hand. An otherwise healthy 24-year-old man presented with an isolated shrapnel injury to his right hand and forearm from an explosion trauma. Computed tomography demonstrated multiple small metal objects in the forearm, hand, and wrist. Additionally, a 3 × 3.5 mm metal object was found in the RV, consistent with a metal shrapnel embolus from the forearm. Echocardiography indicated the fragment to be in a fixed position within the RV, without any additional pathology. Even shrapnel that penetrates through the hand or forearm may migrate to the heart. In this case, following a multidisciplinary discussion, a conservative approach was recommended based on the following condition: lack of symptoms, small size of the foreign body, no obstruction of venous effluent, low risk of significant embolization to the pulmonary vasculature, absence of fever or endocarditis, no current evidence or risk of valve dysfunction, and no myocardial irritation indicated by arrhythmia. The patient was instructed to avoid magnetic resonance imaging scans.

#5

Acute Compression of the Anterior Interosseous Nerve After a Proximal Both-Bone Forearm Fracture: A Case Report.

Cureus2024 Jul

Anterior interosseous nerve (AIN) syndrome is a rare condition characterized by isolated weakness in the flexor pollicis longus (FPL) muscle, sometimes accompanied by weakness in the index flexor digitorum profundus (FDP) muscle. In this clinical case report, an 18-year-old male presented with a right proximal both-bone forearm fracture that was sustained while playing soccer, with subsequent development of AIN palsy, without sensory deficits or progressive pain. Preoperative imaging was performed, showing a proximal third radius and mid-shaft ulna fracture. Given the progressive presentation of an acute AIN palsy, the patient was indicated for urgent operative intervention. During exploration and decompression of the AIN within the pronator tunnel, the nerve was found to be in continuity but was compressed by a large hematoma and the distal radial shaft. The patient recovered full median nerve function by his six-week postoperative examination and by his final follow-up recovered full range of motion with painless return to full activities. In proximal or mid-shaft both-bone forearm fractures, a careful neurovascular exam is essential, as uncommon conditions like anterior interosseous syndrome (AIS) can present without obvious sensory deficits or pain. Potential etiology for traumatic AIN compression includes significant fracture displacement, soft tissue injury, active extravasation on advanced imaging, and/or clinical concern for compressive hematoma. Patients presenting with FPL and/or index FDP weakness in the absence of sensory deficits or pain on passive stretch may benefit from dedicated surgical exploration and decompression of the AIN to prevent irreversible nerve damage.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 12

2026

Wound infection caused by Staphylococcus arlettae: a case report and metal characterization.

Frontiers in cellular and infection microbiology
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

Distal ulnar neck fracture displacement with forearm rotation: A biomechanical cadaveric study.

Journal of hand and microsurgery
2024

A shrapnel migration from a peripheral vein to the right ventricle: case report.

European heart journal. Case reports
2024

Acute Compression of the Anterior Interosseous Nerve After a Proximal Both-Bone Forearm Fracture: A Case Report.

Cureus
2024

Moving a missing hand: children born with below elbow deficiency can enact hand grasp patterns with their residual muscles.

Journal of neuroengineering and rehabilitation
2023

Isolated Ulnar Neuropathy After Acute Angioedema.

Cureus
2023

Higher-Than-Expected Rates of Distal Radioulnar Joint Fixation in Radial Shaft Fractures: Location of Fracture Matters.

Hand (New York, N.Y.)
2019

Ulnar hemimelia: a report of four cases.

Skeletal radiology
2017

Axillary Artery Injury Associated with Proximal Humerus Fracture: A Report of 6 Cases.

The archives of bone and joint surgery
2017

Prenatal diagnosis of upper extremity malformations with ultrasonography: Diagnostic features and perinatal outcome.

Journal of clinical ultrasound : JCU
2015

Evidence-based Comprehensive Approach to Forearm Arterial Laceration.

The western journal of emergency medicine

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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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. Wound infection caused by Staphylococcus arlettae: a case report and metal characterization.
    Frontiers in cellular and infection microbiology· 2026· PMID 41868142mais citado
  2. "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· PMID 41509756mais citado
  3. Distal ulnar neck fracture displacement with forearm rotation: A biomechanical cadaveric study.
    Journal of hand and microsurgery· 2025· PMID 40290854mais citado
  4. A shrapnel migration from a peripheral vein to the right ventricle: case report.
    European heart journal. Case reports· 2024· PMID 39319175mais citado
  5. Acute Compression of the Anterior Interosseous Nerve After a Proximal Both-Bone Forearm Fracture: A Case Report.
    Cureus· 2024· PMID 39114202mais citado
  6. Moving a missing hand: children born with below elbow deficiency can enact hand grasp patterns with their residual muscles.
    J Neuroeng Rehabil· 2024· PMID 38263225recente
  7. Pollicization: the concept, technical details, and outcome.
    Clin Orthop Surg· 2012· PMID 22379553recente
  8. Dorsal transfer of the brachioradialis to the flexor pollicis longus enables simultaneous powering of key pinch and forearm pronation.
    J Hand Surg Am· 2006· PMID 16843162recente
  9. Modulation of sympathetic nerve activity during posthandgrip muscle ischemia in humans.
    Am J Physiol· 1994· PMID 8304526recente
  10. The role of cutaneous afferents in position sense, kinaesthesia, and motor function of the hand.
    Brain· 1983· PMID 6831192recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:294979(Orphanet)
  2. MONDO:0017443(MONDO)
  3. GARD:21194(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55787054(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

Ausência isolada do antebraço e mão
Compêndio · Raras BR

Ausência isolada do antebraço e mão

ORPHA:294979 · MONDO:0017443
CID-10
Q71.2 · Ausência congênita do antebraço e da mão
CID-11
UMLS
C1306663
Wikidata
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