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OBJECTIVES: This study aimed to explore the heterogeneity and gene ontology of Wnt1-Cre-marked and Pax2-Cre-marked first branchial arch cranial neural crest cells (CNCs) in mice. METHODS: The embryos of Wnt1-Cre;R26RmTmG and Pax2-Cre;R26RmTmG at embryonic day (E)8.0-E9.25 were collected for histological observation. We performed immunostaining to compare green fluorescent protein (GFP)-positive CNCs in Pax2-Cre;R26RAi9 and Wnt1-Cre;R26RAi9 mice at E15.5. Single-cell RNA sequencing (scRNA-seq) was used to analyze the first branchial arch GFP-positive CNCs from Wnt1-Cre;R26RmTmG and Pax2-cre;R26RmTmGmice at E10.5. Real time fluorescence quantitative polymerase chain reaction (q-PCR) was performed to validate the differential genes. RESULTS: Wnt1-Cre-marked and Pax2-Cre-marked CNCs migrated from the neural plateto first and second branchial arches and to the first branchial arch, respectively, at E8.0. Although Wnt1-Cre-marked and Pax2-Cre-marked CNCs were found mostly in cranial-facial tissues, the former had higher expression in palate and tongue. The results of scRNA-seq showed that Pax2-Cre-marked CNCs specifically contributed to osteoblast differentiation and ossification, while Wnt1-Cre-marked CNCs participated in limb development, cell migration, and ossification. The q-PCR data also confirmed the results of gene ontology analysis. CONCLUSIONS: Pax2-Cre mice are perfect experimental animal models for research on first branchial arch CNCs and derivatives in osteoblast differentiation and ossification.
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Región Branquial , Cresta Neural , Factor de Transcripción PAX2 , Proteína Wnt1 , Animales , Cresta Neural/metabolismo , Ratones , Proteína Wnt1/metabolismo , Factor de Transcripción PAX2/metabolismo , Integrasas/metabolismo , Proteínas Fluorescentes Verdes/metabolismoRESUMEN
When searching over associations between congenital ear abnormalities, especially microtia and affiliated deformities like cleft lip or palate and congenital heart diseases, some clinical analysis and genetic theories are found. A 10-year-old boy sent to the plastic surgery hospital was puzzled by a congenital anterior auricular fistula with fluid trace for more than 9 years. The preoperative diagnoses were branchial cleft fistula and congenital left ear deformity with postoperation of TOF. By browsing over studies on genetic concerns and clinical performance, it may be attributed to a possible association between microtia, branchial cleft fistula, and tetralogy of Fallot, though whose fundamental mechanisms remain concerned.
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Región Branquial , Microtia Congénita , Tetralogía de Fallot , Humanos , Masculino , Tetralogía de Fallot/cirugía , Región Branquial/anomalías , Región Branquial/cirugía , Niño , Microtia Congénita/cirugía , Fístula/cirugía , Fístula/congénito , Enfermedades Faríngeas , Anomalías CraneofacialesRESUMEN
SATB2-associated syndrome (SAS, glass syndrome, OMIM#612313) is a neurodevelopmental autosomal dominant disorder with frequent craniofacial abnormalities including palatal and dental anomalies. To assess the role of Satb2 in craniofacial development, we analyzed mutant mice at different stages of development. Here, we show that Satb2 is broadly expressed in early embryonic mouse development including the mesenchyme of the second and third arches. Satb2-/- mutant mice exhibit microglossia, a shortened lower jaw, smaller trigeminal ganglia, and larger thyroids. We correlate these findings with the detailed clinical phenotype of four individuals with SAS and remarkable craniofacial phenotypes with one requiring mandibular distraction in childhood. We conclude that the mouse and patient data presented support less well-described phenotypic aspects of SAS including mandibular morphology and thyroid anatomical/functional issues.
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Región Branquial , Proteínas de Unión a la Región de Fijación a la Matriz , Fenotipo , Factores de Transcripción , Proteínas de Unión a la Región de Fijación a la Matriz/genética , Proteínas de Unión a la Región de Fijación a la Matriz/metabolismo , Animales , Humanos , Ratones , Factores de Transcripción/genética , Región Branquial/anomalías , Región Branquial/patología , Anomalías Craneofaciales/genética , Anomalías Craneofaciales/patología , Femenino , Masculino , Ratones Noqueados , Síndrome , Mandíbula/anomalías , Mandíbula/patologíaRESUMEN
In bivalves and gastropods, ventricle contraction causes a negative pressure in the auricles and increases venous return from the afferent oblique vein (AOV): the constant-volume (CV) mechanism. The flow in the AOV should be a pulsative flow synchronized with the ventricular contraction. The flow in the heart and adjacent vessels of Mytilus galloprovincialis were measured by magnetic resonance imaging to confirm this hypothesis. Under a regular heartbeat, pulsative flows in the AOV and branchial vessels (BVs) were almost completely synchronized with the flow in the aorta, while filling of the ventricle was in the opposite phase. Flows in the BVs were directed to the posterior direction, and a pair of BVs in the gill axes (the efferent BVs) were connected to the AOV. Based on the images of the whole pathway of the AOV in an oblique slice, we confirmed that haemolymph flow was evoked from the efferent BVs and flow into the ventricle via the auricle was completed in a single heartbeat. Therefore, the walls of the AOV and BVs could resist negative transmural pressure caused by the ventricular contraction. In conclusion, the auricle, the AOV and the BVs, including the gill filaments, act as a suction pump. The pulsative venous return is driven by the negative pressure of the AOV as in the CV mechanism, and the negative pressure in the efferent BVs could draw haemolymph from the sinus via the gill and the afferent BVs. Therefore, Mytilus can start and stop its heartbeat as necessary.
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Mytilus , Animales , Mytilus/fisiología , Corazón/fisiología , Venas/fisiología , Branquias/fisiología , Imagen por Resonancia Magnética , Región Branquial/fisiología , Hemolinfa/fisiología , Flujo Pulsátil/fisiologíaRESUMEN
Congenital midline cervical cleft is a rare anomaly classified as a malformation of the branchial arches and represents less than 2% of congenital cervical malformations. Its clinical presentation involves cervical midline deformities: cephalic nodular lesion, linear groove with atrophic surface, and/or caudal sinus. Other midline alterations of variable complexity may also be present. Early treatment allows for avoiding long-term complications. Based on our experience in four clinical cases, a performed literature search on the topic in the last twenty years, and subsequent discussion of the employed surgical approaches, we included 150 reported cases in our review. Correct diagnosis and early treatment with complete removal of the fibrous midline band is paramount to avoid patient complaints until adolescence or adulthood.
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Región Branquial , Humanos , Región Branquial/anomalías , Región Branquial/cirugía , Femenino , Masculino , Procedimientos de Cirugía Plástica/métodos , Cuello/anomalías , Cuello/cirugía , Adolescente , Enfermedades Faríngeas , Anomalías CraneofacialesRESUMEN
Loss of function variations in the dual specificity tyrosine-phosphorylation-regulated kinase 1 A (DYRK1A) gene are associated with craniofacial malformations in humans. Here we characterized the effects of deficient DYRK1A in craniofacial development using a developmental model, Xenopus laevis. Dyrk1a mRNA and protein were expressed throughout the developing head and both were enriched in the branchial arches which contribute to the face and jaw. Consistently, reduced Dyrk1a function, using dyrk1a morpholinos and pharmacological inhibitors, resulted in orofacial malformations including hypotelorism, altered mouth shape, slanted eyes, and narrower face accompanied by smaller jaw cartilage and muscle. Inhibition of Dyrk1a function resulted in misexpression of key craniofacial regulators including transcription factors and members of the retinoic acid signaling pathway. Two such regulators, sox9 and pax3 are required for neural crest development and their decreased expression corresponds with smaller neural crest domains within the branchial arches. Finally, we determined that the smaller size of the faces, jaw elements and neural crest domains in embryos deficient in Dyrk1a could be explained by increased cell death and decreased proliferation. This study is the first to provide insight into why craniofacial birth defects might arise in humans with variants of DYRK1A.
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Quinasas DyrK , Proteínas de Xenopus , Xenopus laevis , Animales , Región Branquial/embriología , Región Branquial/metabolismo , Anomalías Craneofaciales/genética , Anomalías Craneofaciales/embriología , Anomalías Craneofaciales/metabolismo , Embrión no Mamífero/metabolismo , Embrión no Mamífero/embriología , Regulación del Desarrollo de la Expresión Génica , Cresta Neural/embriología , Cresta Neural/metabolismo , Proteínas Serina-Treonina Quinasas/metabolismo , Proteínas Serina-Treonina Quinasas/genética , Proteínas Tirosina Quinasas/metabolismo , Proteínas Tirosina Quinasas/genética , Transducción de Señal , Xenopus laevis/embriología , Xenopus laevis/metabolismo , Proteínas de Xenopus/metabolismo , Proteínas de Xenopus/genéticaRESUMEN
OBJECTIVES: The objective of this study is to explore the clinical diagnosis and treatment of the congenital sternoclavicular sinus in the region of sternoclavicular joint, providing valuable insights for clinical practice in children. METHODOLOGY: A retrospective review of case notes was conducted for all patients treated for congenital sternoclavicular sinus at a tertiary care pediatric otolaryngology practice from January 2022 to September 2023.This review analyzed the clinical presentations, imaging examination, pathological examination, and treatment. RESULTS: A total of 56 patients with congenital sternoclavicular sinus were included in the study, with a mean age of 4.10 ± 2.57 years old. Among these patients, the sinuses were located on the left side in 43 cases,on the right side in 12 cases,and bilaterally in one case.While two patients never experienced inflammation, 54 patients did, and 45 of them underwent incision and drainage before excision. Imaging examination, including ultrasonography and computerized tomography (CT) scans, revealed characteristics such as thickening of subcutaneous tissue,subcutaneous tubular structures or tubercles in front of the clavicle,and irregularly shaped lesions with clear borders and uneven internal low echo, Pathological examination confirmed that the sinuses were lined by squamous epithelium in all patients. CONCLUSIONS: The congenital sternoclavicular sinus may be a remnant of the fourth branchial cleft on the skin side.Complete resection of the sinus during the quiescent phase of inflammation is the recommended curative treatment to prevent recurrent infection.
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Inflamación , Tomografía Computarizada por Rayos X , Niño , Humanos , Lactante , Preescolar , Estudios Retrospectivos , Ultrasonografía , Región Branquial/anomalíasRESUMEN
Early patterning of neural crest cells (NCCs) in the craniofacial primordium is important for subsequent development of proper craniofacial structures. However, because of the complexity of the environment of developing tissues, surveying the early specification and patterning of NCCs is difficult. In this study, we develop a simplified in vitro 3D model using human pluripotent stem cells to analyze the early stages of facial development. In this model, cranial NCC-like cells spontaneously differentiate from neural plate border-like cells into maxillary arch-like mesenchyme after a long-term culture. Upon the addition of EDN1 and BMP4, these aggregates are converted into a mandibular arch-like state. Furthermore, temporary treatment with EDN1 and BMP4 induces the formation of spatially separated domains expressing mandibular and maxillary arch markers within a single aggregate. These results suggest that this in vitro model is useful for determining the mechanisms underlying cell fate specification and patterning during early facial development.
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Región Branquial , Células Madre Pluripotentes , Humanos , Cresta Neural , Diferenciación Celular , MandíbulaRESUMEN
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.
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Branquioma , Fístula , Neoplasias de Cabeza y Cuello , Masculino , Femenino , Humanos , Animales , Ratas , Adulto , Branquioma/diagnóstico por imagen , Branquioma/cirugía , Estudios Retrospectivos , Región Branquial/diagnóstico por imagen , Región Branquial/cirugía , Región Branquial/anomalías , Neoplasias de Cabeza y Cuello/diagnóstico por imagen , Neoplasias de Cabeza y Cuello/cirugía , Fístula/cirugía , UltrasonografíaRESUMEN
BACKGROUND: A hinged jaw that articulates with the skull base is a striking feature of the vertebrate head and has been greatly modified between, and within, vertebrate classes. Genes belonging to the DLX homeobox family are conserved mediators of local signaling pathways that distinguish the dorsal and ventral aspects of the first pharyngeal arch. Specifically, a subset of DLX genes are expressed in the cranial neural crest-derived mandibular ectomesenchyme in response to ventral endothelin signaling, an important step that confers the first arch with maxillary and mandibular identities. Downstream targets of DLX genes then execute the morphogenetic processes that lead to functional jaws. Identifying lineage-specific variations in DLX gene expression and the regulatory networks downstream of DLX action is necessary to understand how different kinds of jaws evolved. RESULTS: Here, we describe and compare the expression of all six DLX genes in the chick pharyngeal arches, focusing on the period of active patterning in the first arch. Disruption of endothelin signaling results in the down-regulation of ventral-specific DLX genes and confirms their functional role in avian jaw patterning. CONCLUSIONS: This expression resource will be important for comparative embryology and for identifying synexpression groups of DLX-regulated genes in the chick.
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Proteínas de Homeodominio , Factores de Transcripción , Animales , Factores de Transcripción/metabolismo , Proteínas de Homeodominio/genética , Región Branquial , Regulación del Desarrollo de la Expresión Génica , Maxilares , Pollos/genética , Maxilar/metabolismo , Expresión Génica , Endotelinas/genética , Tipificación del Cuerpo/genéticaRESUMEN
OBJECTIVE: Branchial cleft cysts present at varying ages; sometimes excision is delayed because of concern about operating in small children. Our goal was to determine if outcomes and complications differed among pediatric age groups. STUDY DESIGN: Retrospective, cross-sectional. SETTING: American College of Surgeons' National Surgical Quality Improvement Pediatric database. METHODS: Patients who underwent a branchial cleft cyst excision between 2016 and 2020 were identified in the American College of Surgeons National Surgical Quality Improvement Program (ACS NSQIP) Pediatric database. Patients with CPT code 42,815: 'excision branchial cleft cyst, vestige, or fistula, extending beneath subcutaneous tissues and/or into the pharynx' as their primary procedure were included. Variables of interest included patient demographics, comorbidities, pre-operative risk factors and complications. RESULTS: 2267 patients with median age of 3.9 (IQR: 7.4, range: 0.04-17.9) years were included. The most common pre-operative risk factors were 149 (7 %) patients with prematurity, 136 (6 %) with developmental delay, 135 (6 %) with congenital malformation, and 128 (6 %) with open wound or wound infection. 68 (3 %) patients experienced at least one post-operative complication, with 73 post-operative complications documented in total. Surgical site infections were the most common complications with 49 (67.1 %) superficial infections, 11 (15.1 %) deep infections, and 4 (5.5 %) organ/space infections. Surgical site infections were the most common reason for related readmission. Duration of anesthesia and operative time increased significantly as patient age increased (p < .001 for both). There was no significant correlation between age and complication incidence. CONCLUSION: Branchial cleft cyst excision is a relatively safe operation with a low complication rate, even in young pediatric populations.
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Branquioma , Niño , Humanos , Recién Nacido , Lactante , Preescolar , Adolescente , Branquioma/cirugía , Branquioma/complicaciones , Infección de la Herida Quirúrgica/etiología , Estudios Retrospectivos , Estudios Transversales , Procedimientos Neuroquirúrgicos/métodos , Región Branquial/cirugía , Región Branquial/anomalías , Complicaciones Posoperatorias/etiologíaRESUMEN
BACKGROUND: During embryogenesis, cardiac neural crest-derived cells (NCs) migrate into the pharyngeal arches and give rise to the vascular smooth muscle cells (vSMCs) of the pharyngeal arch arteries (PAAs). vSMCs are critical for the remodeling of the PAAs into their final adult configuration, giving rise to the aortic arch and its arteries (AAAs). RESULTS: We investigated the role of SMAD4 in NC-to-vSMC differentiation using lineage-specific inducible mouse strains. We found that the expression of SMAD4 in the NC is indelible for regulating the survival of cardiac NCs. Although the ablation of SMAD4 at E9.5 in the NC lineage led to a near-complete absence of NCs in the pharyngeal arches, PAAs became invested with vSMCs derived from a compensatory source. Analysis of AAA development at E16.5 showed that the alternative vSMC source compensated for the lack of NC-derived vSMCs and rescued AAA morphogenesis. CONCLUSIONS: Our studies uncovered the requisite role of SMAD4 in the contribution of the NC to the pharyngeal arch mesenchyme. We found that in the absence of SMAD4+ NCs, vSMCs around the PAAs arose from a different progenitor source, rescuing AAA morphogenesis. These findings shed light on the remarkable plasticity of developmental mechanisms governing AAA development.
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Músculo Liso Vascular , Cresta Neural , Animales , Ratones , Aorta , Aorta Torácica , Región Branquial , Músculo Liso Vascular/metabolismoRESUMEN
OBJECTIVES: To evaluate the clinical features of first branchial cleft anomalies (BCAs) and their relationship to pre-operative imaging, pathologic data, and post-operative surveillance outcomes. Additional aims were to assess the validity of the Work classification and describe features of recurrent cysts. METHODS: Records for 56 children (34 females, 22 males; age at surgery of 5.6 ± 4.4 years) collected over a 12-year period (2009-2021) were reviewed. Imaging and pathologic slides were re-reviewed in a blinded fashion by experts in those respective areas. Parents were contacted via telephone to obtain extended follow-up. An alternate classification method based on the presence (type II) or absence (type I) of parotid involvement is provided. RESULTS: Only 55% of first BCAs could be successfully classified using Work's method. First BCAs within the parotid were more likely to present with recurrent infections, involve scarred tissue planes and lymphadenopathy, and demonstrate enlarged lymphoid follicles on pathology. The overall recurrence rate was 16%, and recurrence was 5.3 times more likely when external auditory canal cartilage was not resected. Preoperative imaging was useful for predicting the extent of surgery required and the presence of scarred tissue planes. CONCLUSION: First BCAs within the parotid gland involve more difficult and extensive surgical resection and the potential for morbidity related to facial nerve dissection. Appropriately aggressive surgical resection, which may include the resection of involved ear cartilage, is necessary to prevent morbidity related to recurrence. LEVEL OF EVIDENCE: 4 Laryngoscope, 134:459-465, 2024.
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Anomalías Craneofaciales , Linfadenopatía , Enfermedades Faríngeas , Niño , Masculino , Femenino , Humanos , Lactante , Preescolar , Estudios Retrospectivos , Anomalías Craneofaciales/diagnóstico , Anomalías Craneofaciales/cirugía , Región Branquial/cirugía , Región Branquial/anomalías , CicatrizRESUMEN
OBJECTIVES: Cervical chondrocutaneous branchial remnants (CCBRs) and dermal lesions, such as epidermoid cysts or brachial anomalies, including lateral cervical cysts/sinuses or dermal sinuses of anterior chest lesions, are usually located at the lower neck at the anterior or posterior border of the sternocleidomastoid muscle (SCM). We aimed to demonstrate the usefulness of ultrasonography in the differential diagnosis and evaluation of CCBRs. METHODS: We evaluated 22 lesions of 20 pediatric patients, classified into CCBR and dermal lesion groups. We used Fisher's exact test to evaluate differences between these groups in terms of lesion shape (low-echoic mass- or tubular-like), whether the lesion was adjacent to/in contact with the SCM or not, and the presence or absence of a concave SCM caused by the lesion. RESULTS: Of the 22 lesions, 8 were CCBRs, and 14 were dermal lesions. We found a significant difference in the presence/absence of adjacency to or contact with the SCM (presence/absence of adjacency to or contact with the SCM in CCBRs vs that in dermal lesions: 6/2 vs 1/13, P = .002) and presence/absence of lesion-induced concavity of the SCM (presence/absence of lesion-induced concavity of the SCM in CCBRs vs that in dermal lesions: 3/5 vs 0/14, P = .036). The lesion shape (low-echoic mass-like/tubular-like lesions) did not significantly differ between the two study groups (low-echoic mass-like/tubular-like lesions in CCBRs vs that in dermal lesions: 5/3 vs 11/6, P = .624). CONCLUSIONS: CCBRs have a strong association with the SCM. These sonographic findings may be useful in the differential diagnosis of dermal cervical lesions.
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Cartílago , Quiste Epidérmico , Niño , Humanos , Proyectos Piloto , Cartílago/anomalías , Cartílago/patología , Región Branquial/anomalías , Región Branquial/patología , Cuello/patologíaRESUMEN
BACKGROUND: Mandibulofacial dysostosis Guion-Almeida Type (MFDGA; OMIM#610536) is a rare autosomal dominant genetic disorder caused by heterozygous pathogenic variants in the EFTUD2 gene. Mandibulofacial dysostoses are characterised by the core triad malar hypoplasia, maxillary hypoplasia and dysplastic ears, all derived by the impaired development of the first and second branchial arches. Differential diagnosis is often challenging. The early genetic diagnosis is extremely useful, not only for the correct management of cranial malformations, but also for the early diagnosis and treatment of the comorbidities associated to the disease, which greatly benefit from early treatment.
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Región Branquial , Disostosis Mandibulofacial , Humanos , Disostosis Mandibulofacial/genética , Diagnóstico Diferencial , Cigoma , Factores de Elongación de Péptidos , Ribonucleoproteína Nuclear Pequeña U5RESUMEN
Branchiogenic cysts are benign lesions caused by anomalous development of the branchial cleft. They are typically detected in individuals aged between their twenties and forties. Ultrasonography is the first-line imaging method of choice. Surgical excision is the sole treatment modality (Tab. 1, Fig. 6, Ref. 25). Keywords: branchiogenic cyst, extirpation, ultrasonography, computed tomography.
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Branquioma , Neoplasias de Cabeza y Cuello , Humanos , Branquioma/diagnóstico por imagen , Branquioma/cirugía , Branquioma/patología , Procedimientos Quirúrgicos Vasculares , Región Branquial/patología , Tomografía Computarizada por Rayos XRESUMEN
Controversies continue as to how many pharyngeal arches, with their contained arteries, are to be found in the developing human. Resolving these controversies is of significance to paediatric cardiologists since many investigating abnormalities of the extrapericardial arterial pathways interpret their findings on the basis of persistence of a fifth set of such arteries within an overall complement of six sets. The evidence supporting such an interpretation is open to question. In this review, we present the history of the existence of six such arteries, emphasising that the initial accounts of human development had provided evidence for the existence of only five sets. We summarise the current evidence that substantiates these initial findings. We then show that the lesions interpreted on the basis of persistence of the non-existing fifth arch arteries are well described on the basis of the persistence of collateral channels, known to exist during normal development, or alternatively due to remodelling of the aortic sac.
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Arterias , Región Branquial , Niño , Humanos , Aorta TorácicaRESUMEN
The dlx genes encode transcription factors that establish a proximal-distal polarity within neural crest cells to bestow a regional identity during craniofacial development. The expression regions of dlx paralogs are overlapping yet distinct within the zebrafish pharyngeal arches and may also be involved in progressive morphologic changes and organization of chondrocytes of the face. However, how each dlx paralog of dlx1a, dlx2a, dlx5a and dlx6a affects craniofacial development is still largely unknown. We report here that the average lengths of the Meckel's, palatoquadrate and ceratohyal cartilages in different dlx mutants were altered. Mutants for dlx5a-/- and dlx5i6-/-, where the entire dlx5a/dlx6a locus was deleted, have the shortest lengths for all three structures at 5 days post fertilization (dpf). This phenotype was also observed in 14 dpf larvae. Loss of dlx5i6 also resulted in increased proliferation of neural crest cells and expression of chondrogenic markers. Additionally, altered expression and function of non-canonical Wnt signaling were observed in these mutants suggesting a novel interaction between dlx5i6 locus and non-canonical Wnt pathway regulating ventral cartilage morphogenesis.
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Región Branquial , Vía de Señalización Wnt , Animales , Condrocitos , Condrogénesis , Pez Cebra/genéticaRESUMEN
There are many possible causes of congenital neck masses, with the most common ones being thyroglossal duct cysts, branchial cleft anomalies, and vascular malformations. Most congenital neck masses are asymptomatic in the neonatal period, but depending on the location and the size, they can cause airway obstruction and serious complications at birth. Proper diagnosis is important for optimal treatment planning, and if the airway is compromised, multidisciplinary teamwork is critical for proper airway management. This review summarizes the clinical features, etiology, diagnosis, management, and prognosis of different types of congenital neck masses.