RESUMO
OBJECTIVE: The ultrasonic diagnosis of cervical and facial cystic masses, as well as cases of missed diagnosis and misdiagnosis, was examined, to improve the diagnosis of branchial cleft anomalies. METHODS: A retrospective analysis was conducted on 17 patients with branchial cleft cyst anomalies, including 11 males and 6 females, aged 12-53 years, with an average age of 33 ± 2 years, were unilateral single. All patients who underwent an ultrasound examination and image storage for retrospective analysis, and both longitudinal and transverse sections were scanned to observe the shape, size, boundary, peripheral relationship, and blood flow signal of the masses. All cases were examined with an enhanced CT scan, and pathological reports were generated. RESULTS: Among the 17 cases of branchial cleft anomalies, 15 cases were branchial cleft cysts, while one case involved fistula formation and one case involved sinus tract formation. Based on the type of branchial cleft, the first, second, and third cysts were classified in 4, 12, and 1 case, respectively. The sensitivity rate and specificity of ultrasonic diagnosis were 14/17 (82.4%) and 4/6 (66.7%), respectively. Ultrasonic characteristic analysis for the masses can be found in simple cystic masses or hypoechoic masses, most of them are of a regular shape and have a distinct boundary, and almost no blood flow signal. All patients who were misdiagnosed exhibited blood flow signals, including 1 patient with an abundant blood flow signal, 1 patient suspected of having ectopic thyroid with an abnormal function due to the rat-tail sign, 2 patients misdiagnosed as local inflammatory focus, and 1 patient misdiagnosed with tuberculous lymphadenitis. CONCLUSION: Ultrasound has a detection rate of up to 100% for cervical and facial masses, providing a fundamental determination of lesion characteristics and specific guidance for preoperative diagnosis. If the blood flow signals can be identified and carefully considered their peripheral relationship, the diagnostic rate can be improved.
Assuntos
Branquioma , Fístula , Neoplasias de Cabeça e Pescoço , Masculino , Feminino , Humanos , Animais , Ratos , Adulto , Branquioma/diagnóstico por imagem , Branquioma/cirurgia , Estudos Retrospectivos , Região Branquial/diagnóstico por imagem , Região Branquial/cirurgia , Região Branquial/anormalidades , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Neoplasias de Cabeça e Pescoço/cirurgia , Fístula/cirurgia , UltrassonografiaRESUMO
PURPOSE: To investigate the anatomical relationships between the structures adjacent to the cartilaginous portion of the ear canal in children with Work type I congenital branchial cleft anomalies (CFBCAs) and to develop new classifications and surgical strategies. METHODS: Retrospective analysis was performed on 50 children with Work type I CFBCAs admitted between December 2018 and December 2022. RESULTS: Among the 50 children, total parotidectomy was performed on 49 sides. In 44 cases (88%), the main body of the lesion was closely associated with the cartilage of the inferior ear canal wall. Among these cases, the lesions in 40 cases occurred within the space enclosed by the dorsal inferior wall cartilage, mastoid process, and parotid gland, while in the remaining four cases, the lesions were located between the anterior inferior wall cartilage and parotid gland. Based on the preoperative imaging observations, clinical manifestations, and intraoperative findings, the cases were classified into 6 subtypes (a to f) including 21 cases (42%) of Type Ia (inferior wall of EAC), 7 cases (14%) of Type Ib (bottom wall of EAC), 12 cases (24%) of Type Ic (posterior-inferior wall of EAC), 4 cases (8%) of Type Id (anterior-inferior wall of EAC), 4 cases (8%) of Type Ie (anterior ear wall of EAC), and 2 cases (4%) of Type If (isolated from parotid). CONCLUSION: Surgical intervention is the only treatment for first branchial cleft anomalies and a comprehensive understanding of the classifications will help with the precise localisation and excision of the lesions.
Assuntos
Anormalidades Craniofaciais , Doenças Faríngeas , Criança , Humanos , Estudos Retrospectivos , Anormalidades Craniofaciais/patologia , Doenças Faríngeas/cirurgia , Meato Acústico Externo/cirurgia , Região Branquial/diagnóstico por imagem , Região Branquial/cirurgia , Região Branquial/anormalidadesRESUMO
It is challenging to determine the in vivo material properties of a very soft, mesoscale arterial vesselsof size â¼ 80 to 120 µm diameter. This information is essential to understand the early embryonic cardiovascular development featuring rapidly evolving dynamic microstructure. Previous research efforts to describe the properties of the embryonic great vessels are very limited. Our objective is to measure the local material properties of pharyngeal aortic arch tissue of the chick-embryo during the early Hamburger-Hamilton (HH) stages, HH18 and HH24. Integrating the micropipette aspiration technique with optical coherence tomography (OCT) imaging, a clear vision of the aspirated arch geometry is achieved for an inner pipette radius of Rp = 25 µm. The aspiration of this region is performed through a calibrated negatively pressurized micro-pipette. A computational finite element model is developed to model the nonlinear behaviour of the arch structure by considering the geometry-dependent constraints. Numerical estimations of the nonlinear material parameters for aortic arch samples are presented. The exponential material nonlinearity parameter (a) of aortic arch tissue increases statistically significantly from a = 0.068 ± 0.013 at HH18 to a = 0.260 ± 0.014 at HH24 (p = 0.0286). As such, the aspirated tissue length decreases from 53 µm at HH18 to 34 µm at HH24. The calculated NeoHookean shear modulus increases from 51 Pa at HH18 to 93 Pa at HH24 which indicates a statistically significant stiffness increase. These changes are due to the dynamic changes of collagen and elastin content in the media layer of the vessel during development.
Assuntos
Aorta Torácica , Região Branquial , Tomografia de Coerência Óptica , Aorta Torácica/diagnóstico por imagem , Colágeno , Coração , Estresse Mecânico , Embrião de Galinha , Região Branquial/irrigação sanguínea , Região Branquial/diagnóstico por imagemRESUMO
Branchial cleft anomalies are embryonic remnants of the branchial arches and are described as the second most common congenital neck mass. Depending on their extent, these anomalies are classified as a cyst, sinus, or fistula with branchial cysts being the most common. Branchial cysts deriving from the second branchial arch are by far the most common, accounting for approximately 95% of all cases. Complete second branch arch fistulas with both an internal and external opening are a rare variant of this anomaly, and even less have been well-documented on computed tomography (CT) imaging in the literature. We present here a case of a 20-year-old female with CT findings consistent with a complete second branchial arch fistula extending from the tonsillar fossa to the external lateral neck.
Assuntos
Branquioma , Fístula , Neoplasias de Cabeça e Pescoço , Adulto , Região Branquial/anormalidades , Região Branquial/diagnóstico por imagem , Região Branquial/cirurgia , Branquioma/congênito , Branquioma/diagnóstico por imagem , Branquioma/cirurgia , Anormalidades Craniofaciais , Feminino , Fístula/diagnóstico por imagem , Fístula/cirurgia , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Neoplasias de Cabeça e Pescoço/cirurgia , Humanos , Doenças Faríngeas , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
BACKGROUND AND PURPOSE: Third and fourth branchial apparatus anomalies are rare congenital anomalies. The purpose of this study was to investigate imaging features of these lesions on fetal MR imaging in comparison with lymphatic malformations, the major competing differential diagnosis in these cases. MATERIALS AND METHODS: A retrospective review of our institutional fetal MR imaging database between 1997 and 2019 resulted in 4 patients with confirmed third and fourth branchial apparatus anomalies and 14 patients with confirmed lymphatic malformations. The imaging features were reviewed by consensus, and the Fisher exact test was used to evaluate statistically significant differences between these 2 populations. RESULTS: Four cases of third and fourth branchial apparatus anomalies were imaged at 29 weeks 1 day (range, 23 weeks 1 day to 33 weeks 4 days). All 4 cases demonstrated unilateral, unilocular cysts without reduced diffusion or hemorrhage and a medially directed beaked contour that tapered between the spine and airway at the level of the piriform sinus. Compared with 14 cases of fetal lymphatic malformations imaged at 27 weeks 6 days (range, 21 weeks 3 days to 34 weeks 6 days), third and fourth branchial apparatus cysts were significantly more likely to be unilocular (P < .005) and to have a medially beaked contour (P < .005). The combination of features of unilateral, unilocular, and medially beaked contour was observed only in the fetuses with third and fourth branchial apparatus cysts (P < .001). CONCLUSIONS: The presence of a left-sided unilocular cyst with a medially beaked contour tapering at the level of the piriform sinus suggests the diagnosis of third and fourth branchial apparatus anomaly. Accurate diagnosis in the prenatal period allows proper counseling, genetic work-up, and treatment, potentially sparing patients from recurrent infections and associated morbidity.
Assuntos
Branquioma , Neoplasias de Cabeça e Pescoço , Região Branquial/diagnóstico por imagem , Branquioma/diagnóstico por imagem , Feminino , Humanos , Gravidez , Diagnóstico Pré-Natal , Estudos RetrospectivosRESUMO
First branchial cleft anomalies are quite rare, and the majority of them are found in and around the ear canal, mostly superficial to the facial nerve. Very rarely, the anomalous tract of the first branchial cleft can go deeper to the facial nerve, necessitating a meticulous and extensive surgery. A 21-year-old student presented with slowly increasing cystic swelling in the infra-auricular region. Findings of the magnetic resonance imaging were consistent with the first branchial cleft cyst, which also exhibited a deeper extent of the lesion into the parapharyngeal space. The entire tract was excised along with the superficial parotidectomy by an open approach. In addition to illustrating the presentation and management of this peculiar case, the present report also reviews the latest literature around their management.
Assuntos
Branquioma , Neoplasias de Cabeça e Pescoço , Adulto , Região Branquial/diagnóstico por imagem , Região Branquial/cirurgia , Branquioma/diagnóstico por imagem , Branquioma/cirurgia , Meato Acústico Externo/diagnóstico por imagem , Meato Acústico Externo/cirurgia , Humanos , Espaço Parafaríngeo , Adulto JovemRESUMO
The patient repeatedly suffer from pain in the left side neck for 4 years and had 1-2 recurrence per year. We used neck ultrasound and neck CT examination to find an abnormal soft tissue lumps exist in the patient's left neck root to the trachea esophageal ditch. Diagnostic analysis combines embryogenesis and anatomy, and the diagnosis results are infection with the fourth branchial fissure. The lesion site was completely excisioned with full hemp surgery, the incision showed I type healing after surgery, and there was no recurrence after six months of follow-up.
Assuntos
Região Branquial , Pescoço , Região Branquial/diagnóstico por imagem , Região Branquial/cirurgia , Humanos , Recidiva , Estudos Retrospectivos , Tomografia Computadorizada por Raios XRESUMO
ABSTRACT: Branchial cleft anomalies are the second most common type of congenital neck mass and typically are diagnosed in patients under age 5 years. This article describes a rare presentation of an adult with a branchial cleft anomaly.
Assuntos
Anormalidades Craniofaciais , Doenças Faríngeas , Adulto , Região Branquial/anormalidades , Região Branquial/diagnóstico por imagem , Pré-Escolar , HumanosRESUMO
OBJECTIVES: To describe and assess a novel technique of complete endoscopic combined transcervical-transoral fistulectomy (ECCOF) in the management of pediatric complete second branchial cleft (BC) fistula tracts (SBCFTs). METHODS: A prospective single-center consecutive case series of SBCFTs was designed. Course and angles of inclination of the tract towards the pharyngeal wall were assessed using CT fistulography. Complete endoscopic fistulectomy was performed using three levels of dissection via ECCOF. Technique, advantages, complications and recurrences were assessed. RESULTS: Five children with a mean age of 4.1 ± 0.96 years and seven SBCFTs were included. Four were left-sided fistulae (57.2%), while three were right-sided fistulae (42.8%). The average angle of deep inclination of the fistula tracts between the first and second parts of the fistula tracts (at the carotid bifurcation) was 143.57 ± 10.92°. Complete visualization with safe dissection in all three levels of ECCOF was obtained for all fistulae. No recurrence or complications were observed with an average follow-up of 35.85 ± 22.13 months. CONCLUSION: Endoscopic management of SBCFTs appears to be effective and safe. It avoids the prerequisite for wide or double incisions and enables an excellent view of the surrounding structures, which leads to fewer complications and recurrences.
Assuntos
Região Branquial , Fístula , Região Branquial/diagnóstico por imagem , Região Branquial/cirurgia , Criança , Pré-Escolar , Endoscopia , Humanos , Pescoço , Estudos ProspectivosRESUMO
BACKGROUND: Second branchial cleft cysts (SBCCs) are congenital benign tumors that comprise up to 90% of all branchial cleft anomalies. SBCCs typically present in the lateral neck along the anterior border of the upper third of the sternocleidomastoid muscle. We describe a case of a SBCC presenting in an unusual location in the lower neck close to midline. METHODS: An 18-year-old male presented with a 2-year history of a neck mass in the suprasternal notch. Imaging findings were reviewed with a head and neck radiologist who felt that the findings were highly suggestive of a fourth branchial cleft cyst. RESULTS: The patient underwent surgical excision of the mass. Final pathologic evaluation confirmed the diagnosis of a second branchial cleft cyst. CONCLUSIONS: Though extremely uncommon, second branchial cleft cysts can extend to the suprasternal notch and should not be excluded from the differential diagnoses of lower neck masses.
Assuntos
Branquioma , Neoplasias de Cabeça e Pescoço , Doenças Faríngeas , Adolescente , Região Branquial/diagnóstico por imagem , Região Branquial/cirurgia , Branquioma/diagnóstico por imagem , Branquioma/cirurgia , Diagnóstico Diferencial , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Neoplasias de Cabeça e Pescoço/cirurgia , Humanos , Masculino , Pescoço/cirurgiaAssuntos
Região Branquial/cirurgia , Fístula Cutânea/cirurgia , Fístula/cirurgia , Adulto , Região Branquial/anormalidades , Região Branquial/diagnóstico por imagem , Região Branquial/patologia , Anormalidades Craniofaciais/diagnóstico por imagem , Anormalidades Craniofaciais/patologia , Anormalidades Craniofaciais/cirurgia , Fístula Cutânea/diagnóstico por imagem , Fístula Cutânea/patologia , Fístula/diagnóstico por imagem , Fístula/patologia , Fluoroscopia , Humanos , Masculino , Doenças Faríngeas/diagnóstico por imagem , Doenças Faríngeas/patologia , Doenças Faríngeas/cirurgia , Tomografia Computadorizada por Raios XRESUMO
OBJECTIVES/HYPOTHESIS: We aimed to analyze the clinical characteristics and introduce a new subclassification system for type II first branchial cleft anomalies (FBCAs) based on magnetic resonance imaging (MRI) findings. STUDY DESIGN: Retrospective cases study. METHODS: We conducted an analysis of data from patients with type II FBCAs. MRI findings were used to categorize FBCAs into three subtypes. FBCAs located between the subcutaneous tissue and parotid were classified as type IIa. FBCAs located between the deep and superficial lobes of the parotid were classified as type IIb. FBCAs located between the parotid and the carotid sheath were classified as type IIc. RESULTS: Patients with type II FBCAs were classified as type IIa, IIb, and IIc in 14, 14, and seven cases, respectively. Type IIa lesions exhibited a close relationship with the facial nerve in 42.9% of cases. In these cases, the main trunk of the facial nerve adhered to the lesion and was located superficially to the FBCA. In all patients with type IIb lesions, the main trunk and marginal mandibular branch of the facial nerve adhered to the lesion. The main trunk of the facial nerve adhered to the lesion in one patient with a type IIc. There was no relationship between the lesion and the facial nerve in the remaining type IIc cases. CONCLUSIONS: MRI can be used to identify the locations of FBCA and the parotid, which can aid surgeons in predicting the relationship between the lesion and the facial nerve. It is feasible to classify type II FBCAs into three subtypes based on MRI. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:916-920, 2021.
Assuntos
Região Branquial/anormalidades , Anormalidades Craniofaciais/classificação , Anormalidades Craniofaciais/diagnóstico por imagem , Imageamento por Ressonância Magnética , Doenças Faríngeas/classificação , Doenças Faríngeas/diagnóstico por imagem , Adolescente , Região Branquial/diagnóstico por imagem , Região Branquial/cirurgia , Criança , Pré-Escolar , Anormalidades Craniofaciais/cirurgia , Feminino , Humanos , Lactente , Masculino , Doenças Faríngeas/cirurgia , Estudos RetrospectivosRESUMO
PURPOSE: Second branchial cleft (BC) sinus/fistula anomalies usually present in children. Their definitive management requires complete tract surgical excision, which necessities accurate extension assessment. Our aim is to propose and describe a novel intraoperative endoscopic technique that can help in evaluating the exact BC anomaly tract extension and overcome disadvantages of currently used methods including imaging and intraoperative methylene blue tract injection. METHODS: The innovative intraoperative endoscopic technique involves performing BC sinus/fistula tract intraluminal endoscopy utilizing miniature 1.3 or 1.6 mm all-in-one semi-rigid endoscopes as well as other accessory equipment currently available and used for sialendoscopy for delineation of exact tract extension followed by a complete standard surgical excision tailored to and assisted by the endoscopic procedure. RESULTS: This novel endoscopic technique was used successfully in five children (age range 8-16 years) presenting with unilateral or bilateral congenital second BC discharging fistula/sinus tracts in the neck. Intraoperative endoscopic assessment took 10-15 min and confirmed the exact tract extension and nature in all patients without complications. Five fistulas and two sinuses were identified and completely surgically resected. No recurrence has been observed after a median follow-up of 29 (range 13-45) months. CONCLUSION: Intraoperative second BC fistula/sinus tract endoscopy could help in accurately assessing anomaly extension, thereby assisting in complete surgical excision. This innovative novel endoscopic technique could avoid disadvantages of currently used methods, especially regarding radiation exposure required for imaging children in whom this anomaly usually presents.
Assuntos
Anormalidades Craniofaciais , Fístula , Doenças Faríngeas , Adolescente , Região Branquial/diagnóstico por imagem , Região Branquial/cirurgia , Criança , Endoscopia , Fístula/diagnóstico , Fístula/cirurgia , HumanosRESUMO
BACKGROUND: Pharyngeal arch anomalies are the second most common form of head and neck congenital defect. The second arch anomalies are the most common, and compromise 95% of cases. Little is known about the 3rd and 4th arch anomalies as they are extremely rare. They most commonly present in childhood with sudden severe left lateral neck infection and abscess formation with considerable tendency to recur, contributing to significant mortality and morbidity in those patients. CASE PRESENTATION: Here we present four cases finally diagnosed as third or fourth pharyngeal arch anomalies, with more than 20 years of follow-up following their definitive surgery. The possibility that they are thymopharyngeal duct remnants is discussed. CONCLUSION: Meticulous open radical surgical excision of all involved paralaryngeal, parapharyngeal and thyroid tissue, with preservation of the superior and recurrent laryngeal nerves, is required for cure of recurrent cases.
Assuntos
Região Branquial/anormalidades , Adolescente , Região Branquial/diagnóstico por imagem , Região Branquial/embriologia , Região Branquial/cirurgia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Infecções/etiologia , Masculino , Radiografia , Tireoidite/diagnóstico , Tireoidite/etiologia , Adulto JovemRESUMO
Branchial fistulas are uncommon in the clinical setting. The coexistence of first and second branchial fistulas has not been previously reported. We herein describe a 12-year-old girl who presented with a 2-year history of repeated swelling and purulence behind the right earlobe and neck. According to the patient's physical and auxiliary examination findings, she was diagnosed with coexisting first and second branchial fistulas, both of which were completely removed by surgery. No clinical signs of fistula recurrence were present at the patient's 20-month postoperative follow-up. Ipsilateral coexisting first and second branchial fistulas are very rare; thus, a false-positive diagnosis can easily occur if the doctor does not carefully perform specialized physical examinations. Surgery is an effective method for treating this condition. Adequate preoperative imaging preparation is imperative to ensure the most effective course of treatment. The purpose of this article is to improve clinicians' awareness of this disease, thereby effectively reducing the rates of missed diagnosis and recurrence.
Assuntos
Anormalidades Craniofaciais , Fístula , Doenças Faríngeas , Região Branquial/diagnóstico por imagem , Região Branquial/cirurgia , Criança , Feminino , Fístula/diagnóstico por imagem , Fístula/cirurgia , Humanos , PescoçoRESUMO
BACKGROUND: Second branchial cleft fistulae are rare pediatric anomalies managed with surgical excision and, in certain cases, ipsilateral tonsillectomy to prevent postoperative recurrence or wound infection. Limited information is available in the published literature regarding surgical techniques to maximize patient outcomes and minimize recurrence. Our objective was to describe outcomes for the largest series of branchial cleft fistulae excised using a uniform technique based on embryologic principles. METHODS: We conducted a retrospective analysis of pediatric patients who underwent surgery for second branchial cleft fistula using a uniform technique developed by the senior surgeon between 2006 and 2018 at a tertiary care pediatric hospital. The technique involves dissection to the level of the greater cornu of the hyoid bone as the point of transection, which is the landmark for the base of the tonsillar fossa. Data collected included age at surgery, initial presentation, laterality of fistula tract, final pathology, and follow up data. Measured outcomes included fistula recurrence, wound infection, and other complications. RESULTS: Of 67 patients, 28 (42%) were male and 10 (15%) had bilateral fistulae, for a total of 77 tracts excised. After a median follow up of 31 months, there were no recurrences and one wound infection that was treated successfully with oral antibiotic therapy. No patients underwent tonsillectomy. CONCLUSION: Effective management of second branchial cleft fistulae can be challenging. We present the largest cohort of results using a uniform surgical technique performed at a single center that obviates the need for tonsillectomy, and thus represents a less morbid and effective approach with no evidence of recurrence.
Assuntos
Região Branquial/anormalidades , Anormalidades Craniofaciais/cirurgia , Fístula/cirurgia , Doenças Faríngeas/cirurgia , Adolescente , Região Branquial/diagnóstico por imagem , Região Branquial/cirurgia , Criança , Pré-Escolar , Anormalidades Craniofaciais/diagnóstico por imagem , Feminino , Fístula/diagnóstico por imagem , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Doenças Faríngeas/diagnóstico por imagem , Estudos Retrospectivos , Adulto JovemRESUMO
Oculo-auriculo-vertebral spectrum (OAVS) [MIM:164210], or Goldenhar syndrome, is a developmental disorder associating defects of structures derived from the first and second branchial arches. The genetic origin of OAVS is supported by the description of rare deleterious variants in a few causative genes, and several chromosomal copy number variations. We describe here a large family with eight male members affected by a mild form of the spectrum, mostly auricular defects, harboring a hemizygous ZIC3 variant detected by familial exome sequencing: c.159_161dup p.(Ala55dup), resulting in an expansion of the normal 10 consecutive alanine residues to 11 alanines. Segregation analysis shows its presence in all the affected individuals, with a recessive X-linked transmission. Whole-genome sequencing performed in another affected male allowed to exclude linkage disequilibrium between this ZIC3 variant and another potential pathogenic variant in this family. Furthermore, by screening of a cohort of 274 OAVS patients, we found 1 male patient carrying an expansion of 10 to 12 alanines, a variant previously reported in patient presenting with VACTERL. Loss-of-function variants of ZIC3 are causing heterotaxy or cardiac malformations. These alanine expansion variants could have a different impact on the protein and thereby resulting in a different phenotype within the OAVS/VACTERL.
Assuntos
Canal Anal/anormalidades , Esôfago/anormalidades , Doenças Genéticas Ligadas ao Cromossomo X/genética , Predisposição Genética para Doença , Síndrome de Goldenhar/genética , Cardiopatias Congênitas/genética , Proteínas de Homeodomínio/genética , Rim/anormalidades , Deformidades Congênitas dos Membros/genética , Coluna Vertebral/anormalidades , Traqueia/anormalidades , Fatores de Transcrição/genética , Adolescente , Adulto , Alanina/genética , Canal Anal/patologia , Região Branquial/diagnóstico por imagem , Região Branquial/patologia , Criança , Pré-Escolar , Variações do Número de Cópias de DNA/genética , Esôfago/patologia , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Síndrome de Goldenhar/patologia , Cardiopatias Congênitas/patologia , Humanos , Lactente , Rim/patologia , Deformidades Congênitas dos Membros/patologia , Mutação com Perda de Função/genética , Masculino , Sequências Repetitivas de Aminoácidos/genética , Coluna Vertebral/patologia , Traqueia/patologia , Sequenciamento Completo do Genoma , Adulto JovemRESUMO
Branchial cleft abnormality is a common congenital neck malformation in children, which is caused by the abnormal development of the gill sac or gill groove. It is mainly manifested as a cyst in the sinus tract and fistula in the neck, as well as branchio-oto-renal syndrome (BORS). As a rare autosomal dominant genetic disease, the typical manifestations of BORS are hearing loss, abnormal branchial cleft development and renal dysplasia. In this paper, a patient was admitted to the hospital for bilateral branchial cleft fistulas combined with bilateral anterior auricular fistulas, auricular appendix, auricle dysplasia, external auditory canal stenosis, and hearing loss. The patient was diagnosed with BORS, and underwent fistulectomy of the neck and anterior ear, external auditory canal formation, and tympanoplasty. The aim of this report is to strengthen clinicians' understanding of BORS and reduce the rate of clinical missed diagnosis through our case report and literature review.
Assuntos
Síndrome Brânquio-Otorrenal , Anormalidades Craniofaciais , Fístula , Doenças Faríngeas , Região Branquial/diagnóstico por imagem , Região Branquial/cirurgia , Síndrome Brânquio-Otorrenal/diagnóstico por imagem , Síndrome Brânquio-Otorrenal/genética , Criança , Fístula/diagnóstico por imagem , Fístula/cirurgia , HumanosRESUMO
OBJECTIVES: First arch syndromes are congenital defects caused by failure of neural crest cells to migrate into the first branchial arch. First arch syndrome is classified into 2 main clinical manifestations: Treacher Collins syndrome, characterized by bilateral underdevelopment of the zygomatic bones; and Pierre Robin sequence. The aim of this study was to describe the feasibility of visualization of the fetal zygomatic bone and assess its application in cases referred for features suggestive of first arch syndrome. METHODS: A prospective cohort study was conducted. The feasibility of visualization of the zygomatic bone was performed in 50 sequential fetuses with a normal anatomic scan between 12 and 24 weeks' gestation using 3-dimensional sonography. Following this, cases referred for targeted scans for suspected first branchial arch syndrome were assessed for the presence or absence of the zygomatic bones. RESULTS: Visualization of the fetal zygomatic bone was feasible in all low-risk cases. Cases referred for targeted scans included 11 isolated cases of micrognathia or retrognathia, 3 cases of microtia, and 3 cases of auricular or facial vestiges. Within this group, the zygomatic bones were visualized in all but 2 cases. No associated extrafacial malformations were detected; therefore, this phenotype was consistent with Treacher Collins syndrome. CONCLUSIONS: Prenatal imaging of the zygomatic bones offers a clinically based sonographic approach to cases referred for features suggestive of first arch syndrome and enables differentiation between the 2 main clinical manifestations: Treacher Collins syndrome and Pierre Robin sequence.