A síndrome de Treacher Collins é uma doença genética caracterizada por deformidades craniofaciais, que afeta o desenvolvimento de estruturas geradas a partir do primeiro e segundo arcos branquiais durante a sétima semana de gestação, período no qual os ossos da face estão em formação e a interferência nos genes codificadores dessas estruturas pode ocorrer. É uma anomalia rara, com incidência de 1:40000 a 1:70000 nascidos vivos.
Introdução
O que você precisa saber de cara
Malformação congênita rara que afeta o pescoço, geralmente apresentando-se como um cisto ou fístula perto da cartilagem tireóidea. Pode causar infecções recorrentes e dor.
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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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 — Anomalia da terceira fenda branquial
Centros de Referência SUS
24 centros habilitados pelo SUS para Anomalia da terceira fenda branquial
Centros para Anomalia da terceira fenda branquial
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Third and Fourth Branchial Cleft Sinus Presenting with Neck Discharge - A Rare Case Report.
Third and fourth branchial cleft anomalies are rare congenital defects affecting children. They arise due to the incomplete obliteration of branchial clefts during embryogenesis. Nearly 90% of the third or fourth branchial pouch sinus tracts are situated on the left side of the neck. It is difficult to differentiate the third and fourth branchial cleft anomalies on radiological imaging due to their close proximity; hence, they may be treated as the same disease. In this report, we describe the case of a 17-year-old male patient with a persistent branchial cleft sinus tract and its clinical presentation, diagnostic evaluation, and surgical management and discuss the preoperative evaluation, pitfalls in diagnosis, and surgical management, including strategies for the management of third or fourth branchial cleft sinus. RésuméLes anomalies des troisième et quatrième fentes branchiales sont des malformations congénitales rares chez l’enfant. Elles résultent d’une oblitération incomplète des fentes branchiales au cours de l’embryogenèse. Près de 90 % des fistules des troisième et quatrième poches branchiales sont situées du côté gauche du cou. Il est difficile de différencier les anomalies des troisième et quatrième fentes branchiales sur les images radiologiques en raison de leur proximité; de ce fait, elles peuvent être traitées comme une seule et même pathologie. Dans ce rapport, nous décrivons le cas d’un patient de 17 ans présentant une fistule branchiale persistante, ainsi que sa présentation clinique, son bilan diagnostique et sa prise en charge chirurgicale. Nous discutons également du bilan préopératoire, des difficultés diagnostiques et de la prise en charge chirurgicale, notamment des stratégies de traitement des fistules des troisième et quatrième fentes branchiales. Branchial cleft cysts are congenital anomalies arising from the first through fourth pharyngeal clefts. The most common type of branchial cleft cyst arises from the second cleft, with anomalies derived from the first, third, and fourth clefts being rarer. As this is a congenital anomaly, brachial cleft cysts are present at birth, although they may not be obvious or symptomatic until later. The majority of lesions present in childhood as a visible punctum on the skin of the anterior neck with or without periodic drainage; however, they may present as a neck mass or as recurrent abscesses due to infections within the tract. Branchial cleft anomalies occur in 1 of 3 forms: cysts, sinuses, or fistulae. Cysts are epithelial-lined structures that do not have external openings that connect to the skin or pharynx, and as such, may be asymptomatic and only noticed incidentally. Such cysts may not present until adulthood. Sinus tracts connect either the skin or the pharynx to a blind pouch. Sinus tracts may communicate externally with skin as a visible punctum or internally with the pharynx or larynx, where the punctum opening will only be visible on endoscopy. Branchial cleft fistulae are true communications connecting the pharynx or larynx with the external skin.
Third and Fourth Branchial Arch Anomalies in Children: Insights from a Tertiary Care Center.
The third and fourth branchial cleft and pouch anomalies are the rarest among the anomalies of branchial arches and can pose diagnostic and management challenges in pediatric patients. Our study aimed to describe the clinical presentation, management, and treatment outcomes of the third and fourth branchial cleft and pouch anomalies over a 10-year period in our hospital. A retrospective analysis was conducted on pediatric patients aged 1-18 years who underwent otolaryngologic and pediatric surgical interventions for the third and fourth branchial cleft and pouch anomalies from 2013 to 2022. Clinical data including age, gender, presenting symptoms, age of onset of symptoms, laterality, imaging findings, surgical procedures, complications, and follow-up outcomes were collected, and the database was maintained. Eleven pediatric patients (5 females and 6 males) with a mean age of 4 years (range: 1-9 years) were identified. Common presenting symptoms included neck swelling and recurrent neck infections. Diagnosis was established based on imaging findings on ultrasound and magnetic resonance imaging (MRI)/computed tomography neck aided by suspension microlaryngoscopic visualization of internal opening in the pyriform sinus. Surgical excision of the tract with/without partial thyroidectomy along with endoscopic ablation/cauterization of pyriform sinus opening was the primary treatment modality, with favorable outcomes and no complications. No recurrence was reported during follow-up. A high index of clinical suspicion coupled with MRI and microlaryngoscopic evaluation is vital for accurate diagnosis of these lesions. Treatment should prioritize complete excision of the tract while quiescent. Internal opening ablation/cauterization reduces the risk of recurrence.
Clinical Characteristics of Branchial Cleft Anomalies.
Branchial cleft anomalies (BCA) are a group of relatively common congenital pediatric neck masses, which exhibit wide variability in clinical presentation and treatment approaches. This study attempts to fill this gap by evaluating BCA clinical, radiographic, and treatment features in a large cross-sectional cohort. We performed a retrospective cross-sectional study of patients with BCA presenting to a single pediatric quaternary care center between 2017 and 2023. The radiology information system was queried for the term "branchial," with diagnostic confirmation based on radiology and medical records review including patient demographics, clinical presentation and symptoms, genetic testing, interventions, and pathology. Relevant statistical tests were performed. We retrospectively identified 302 unique patients with 412 imaging examinations that included the term "branchial" in the radiology information system between 2017 and 2023. The final cohort included 167 patients with a total of 246 imaging examinations. Among patients with BCA, median age at presentation was 3.3 years (range 0-22.9). Leading clinical presentations included a neck mass (88%, 147) and skin drainage (29%, 29). BCA classification was first in 37% (61), second in 44% (73), third in 4% (7), and fourth in 15% (26). Interventions included incision and drainage in 70% (121) and complete excision in 54% (91). Among patients with resected BCA, 22% (20/91) experienced at least 1 recurrence. BCA have diverse clinical manifestations for which imaging aids in localization, classification, and interventional planning.
Analysis of Clinical Diagnosis and Treatment Modes for Congenital Branchial Cleft Anomalies.
The objective of this study was to investigate and assess the clinical data of 123 patients diagnosed with congenital branchial cleft anomalies (CBCAs), to summarize pivotal aspects concerning their clinical diagnosis and treatment process. The authors conducted a retrospective analysis of 123 patients who underwent surgical intervention for CBCAs at our institution between August 2005 and September 2021. The clinical demographic characteristics of the patients, primary symptoms, treatment chronology, preoperative diagnostic assessments, surgical strategies, occurrences of postoperative complications, and rates of recurrence were subjected to statistical analysis. Among the enrolled patients, there were 43 cases (34.9%) of congenital first branchial cleft anomalies (CFBCA), 76 cases (61.8%) of congenital second branchial cleft anomalies (CSBCA), and 4 cases (3.3%) of congenital third branchial cleft anomalies (CTBCA), with no cases of congenital fourth branchial anomalies (CFBA). Notably, among all cases, 43 anomalies were situated in the upper one-third of the sternocleidomastoid muscle, while 80 anomalies were located in the lower one-third. Different surgical approaches were selected for patients based on the specific type of anomaly presented. Following surgery, there was recurrence in 14 cases, with factors such as patient age, clinical categorization, lesion type, and history of preoperative infection and surgical intervention identified as primary risk factors for it. CBCAs represent comparatively uncommon disorders affecting the head and cervical regions in clinical practice. Diagnostic modes such as ultrasonography and lipiodol contrast radiography can be used for accurate diagnosis, with surgical intervention serving as the primary therapeutic method.
Management of a Piriform Sinus Fistula With Chronic Neck Infection in an Adult.
A pyriform sinus fistula (PSF) is a rare congenital anomaly due to failed obliteration of the third or fourth pharyngeal pouch. Diagnosis and management of PSF remains controversial. We present a case of PSF and discuss its diagnosis and management. Case report and literature review. A 26-year-old female with a chronic left lateral neck abscess was diagnosed with a left PSF. She underwent surgery through a combined approach to close the openings of the PSF, internally and externally. We first placed a blunted ET tube into the internal opening of the PSF. We then performed an external transcervical approach to close the PSF at the cricothyroid membrane. Briefly, after a neck debridement and washout of the chronic neck infection, we identified the recurrent laryngeal nerve (RLN) in Lore's triangle. We performed left hemithyroidectomy to facilitate the dissection and protection of the RLN to its entrance into the larynx. A flexible laryngoscope was then inserted into the left piriform sinus through the ET tube to guide external dissection by transillumination. The scar tissue attached to the superior pole of the left thyroid lobe was then ligated and divided along the cricothyroid membrane. Lastly, we cauterized the internal opening of the PSF. The patient has remained recurrence-free for 1.5 years with normal vocal cord mobility. Histopathology revealed presence of a squamous-lined tract adjacent to the thyroid tissue. Surgical treatment for patients with PSF should be aimed at closing the internal and external openings of the PSF, debriding chronic neck infection, and protecting the laryngeal nerves, instead of removing the entire tract. A concurrent hemithyroidectomy facilitates the identification and protection of the RLN, as well as excision of the tract. Differentiation between third and fourth branchial cleft fistulae may not be clinically necessary, as it is unlikely to alter the therapeutic plan.
Publicações recentes
Minimally Invasive Endoscopic Resection and Suture Ligation for Third Branchial Cleft Fistulas: Low Recurrence and Reduced Trauma.
Ectopic thymus in the neonatal period: A case report.
Analysis of Clinical Diagnosis and Treatment Modes for Congenital Branchial Cleft Anomalies.
Pre and postnatal diagnosis of a third branchial cleft cyst by sonography and magnetic resonance imaging with three-dimensional virtual reconstruction.
Third branchial cleft cyst as a cause of hoarseness: a case report.
📚 EuropePMC2 artigos no totalmostrando 25
Third and Fourth Branchial Cleft Sinus Presenting with Neck Discharge - A Rare Case Report.
Annals of African medicineThird and Fourth Branchial Arch Anomalies in Children: Insights from a Tertiary Care Center.
Journal of Indian Association of Pediatric SurgeonsClinical Characteristics of Branchial Cleft Anomalies.
AJNR. American journal of neuroradiologyAnalysis of Clinical Diagnosis and Treatment Modes for Congenital Branchial Cleft Anomalies.
The Journal of craniofacial surgeryManagement of a Piriform Sinus Fistula With Chronic Neck Infection in an Adult.
The Annals of otology, rhinology, and laryngologyEndoscopic diagnostic and therapeutic management of branchial cleft fistula type III & IV: a single tertiary centre experience.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryRole of methylene blue with fibrin glue in branchial cleft anomaly case report and review of literature.
Journal of surgical case reportsMicrotia, Branchial Cleft Fistula, and Tetralogy of Fallot: A Possible Association.
The Journal of craniofacial surgeryUltrasound diagnosis and treatment of branchial cleft cyst and preoperative management.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryThe Role of Ipsilateral Tonsillectomy in the Extirpation of Branchial Cleft Anomalies- A Retrospective Monocentric Analysis Over 13 Years.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaFourth Branchial Cleft Cyst: An Important Differential Diagnosis in Lateral Neck Masses.
CureusIdentification of a branchial cleft anomaly via handheld point-of-care ultrasound.
Journal of ultrasonographySuture Ligation of Pyriform Sinus Fistulas Following Cauterization to Treat Branchial Cleft Anomalies.
The Annals of otology, rhinology, and laryngologyUnusual location of a second branchial cleft cyst presenting in the suprasternal notch.
Head & neckResection of Second, Third, and Fourth Branchial Cleft Anomalies with Recurrent or Repeated Neck Infection Using the Selective Neck Dissection Technique.
ORL; journal for oto-rhino-laryngology and its related specialtiesThird or fourth branchial pouch sinus lesions: a case series and management algorithm.
Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-facialeThe utilization of selective neck dissection in the treatment of recurrent branchial cleft anomalies.
MedicineRight-Sided Complete Third Branchial Cleft Fistula.
The Journal of craniofacial surgerySpontaneous closure of branchial sinus of the pyriform fossa.
BMJ case reports[Diagnostic value of multi-slice spiral computerized tomographic fistulography in congenital fistula of neck].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryA fatal case of severe neck abscess due to a third branchial cleft fistula: morphologic and immunohistochemical analyses.
Diagnostic pathologyIntraoperative use of fibrin glue dyed with methylene blue in surgery for branchial cleft anomalies.
The LaryngoscopeLateral cervical sinus: specific sonographic findings in two pediatric cases.
Journal of medical ultrasonics (2001)Branchial cleft and pouch anomalies in childhood: a report of 50 surgical cases.
Journal of endocrinological investigationFourth branchial anomaly presenting with a lateral neck mass in a neonate.
Journal of neonatal surgeryAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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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.
- Third and Fourth Branchial Cleft Sinus Presenting with Neck Discharge - A Rare Case Report.
- Third and Fourth Branchial Arch Anomalies in Children: Insights from a Tertiary Care Center.
- Clinical Characteristics of Branchial Cleft Anomalies.
- Analysis of Clinical Diagnosis and Treatment Modes for Congenital Branchial Cleft Anomalies.
- Management of a Piriform Sinus Fistula With Chronic Neck Infection in an Adult.
- Minimally Invasive Endoscopic Resection and Suture Ligation for Third Branchial Cleft Fistulas: Low Recurrence and Reduced Trauma.
- Ectopic thymus in the neonatal period: A case report.
- Pre and postnatal diagnosis of a third branchial cleft cyst by sonography and magnetic resonance imaging with three-dimensional virtual reconstruction.
- Third branchial cleft cyst as a cause of hoarseness: a case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:141030(Orphanet)
- MONDO:0015377(MONDO)
- GARD:19935(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55785429(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
