Brachial Arch Research Articles

THE COLOBOMAEYE SYNDROME - A RARE CASEREPORT

The COLOMBOMA EYE which means a lash less eye becomes one of the striking features of a rare disorder called TREACHER COLLINS SYNDROME. It may be a condition that affects the development of facial bonesand other tissues of the face. This condition features a wide range of signs and symptoms,from hardly perceptible to severe. Treacher Collins syndrome also called as Franceschettisyndrome is an autosomal dominant disorder of craniofacial development with variableexpressivity. Its named after E Treacher Collins who described the essential components ofthe condition in 1900. It is caused by the mutation of particular gene of which 81-90% of cause will be due to the mutation of TCOF1 gene. Incidence of this syndrome is approximately one in fifty thousandlive births and it affects both genders equally. It affects structures which are derivatives of theprimary and second brachial arches. The foremost common manifestations of TCS are theantimongloid slanting of the palpebral fissures, colobomas of the lower eyelid, hypoplasia ofzygoma and mandible and a spread of ear abnormalities. People with Treacher Collinssyndrome usually have normal intelligence.This article describes clinical and radiographicfeatures of TCS in a 29 yr old male who had reported to the department of Oral Medicineand Radiology with the complaint of forwardly placed upper and lower front teeth since birth.Alsopathogenesis, diagnostic procedure, diagnosis based onscore, management andpreventive aspects are discussed.

The Emergence of Embryonic Myosin Heavy Chain during Branchiomeric Muscle Development

A prerequisite for discovering the properties and therapeutic potential of branchiomeric muscles is an understanding of their fate determination, pattering and differentiation. Although the expression of differentiation markers such as myosin heavy chain (MyHC) during trunk myogenesis has been more intensively studied, little is known about its expression in the developing branchiomeric muscle anlagen. To shed light on this, we traced the onset of MyHC expression in the facial and neck muscle anlagen by using the whole-mount in situ hybridization between embryonic days E9.5 and E15.5 in the mouse. Unlike trunk muscle, the facial and neck muscle anlagen express MyHC at late stages. Within the branchiomeric muscles, our results showed variation in the emergence of MyHC expression. MyHC was first detected in the first arch-derived muscle anlagen, while its expression in the second arch-derived muscle and non-somitic neck muscle began at a later time point. Additionally, we show that non-ectomesenchymal neural crest invasion of the second branchial arch is delayed compared with that of the first brachial arch in chicken embryos. Thus, our findings reflect the timing underlying branchiomeric muscle differentiation.

Cisto epidérmico: relato de caso raro em criança de 5 meses

ABSTRACT The epidermal cyst is a rare, benign lesion, usually asymptomatic and slowly enlarging, more frequently located in the submandibular region. Its etiology is believed to be associated with the epithelial residual tissues retained in the midline during the closure of the first and second brachial arches, in the third and fourth weeks of intra-uterine life. Its clinical characteristics are of a rubbery consistency to palpation, well defined borders, with the absence of skin appendages within their squamous epithelium lined walls. The final diagnosis is confirmed through histopathological examination with stratified squamous epithelium findings in the cystic fluid lumen or keratin. The treatment is usually surgical and without recurrence and the final diagnosis is confirmed through histopathological examination. This paper aims to present a case report of a congenital epidermal cyst in a 5-month-old female patient located in the mouth floor near the sublingual gland duct. The case was treated with excisional biopsy and after follow-up, there was no recurrence.

Diagnostic challenges in Goldenhar syndrome – a case report

Goldenhar syndrome, also known as oculo-auriculo-vertebral syndrome, represents a rare congenital complex of anomalies, involving the development of the first and second brachial arches during the first embryonary stage. In addition to the craniofacial disorders, Goldenhar syndrome can include central nervous system, heart, skeleton or kidneys pathologies as well as vertebral defects. We present the case of a Goldenhar syndrome whose first pathologic sign was tetralogy of Fallot, with associated cardiovascular disorders (atrial septal defect type ostium secundum, and single umbilical artery) and bilateral microtia, with malformation of auditory canal, mandibular hypoplasia and a single epibulbar dermoid. The Goldenhar syndrome was diagnosed after birth, the article emphasizing the difficulties of prenatal diagnosis.

A CASE OF TREACHER COLLINS SYNDROME IN A NEONATE IN A TERTIARY CARE HOSPITAL IN ASSAM

Treacher Collins Syndrome (TCS) or Mandibulofacial dystosis is a rare autosomal dominant disorder of craniofacial development. The congenital malformation is associated with dysmorphogenesis of first and second brachial arches. This condition affects an estimated 1 in 50,000 people. This article describes the clinical features of TCS in a neonate who was referred to the Department of Pediatrics.

Combating Airway Issues with Elective Use of an I Gel in a Child with Goldenhar Syndrome

Introduction: Goldenhar syndrome is an oculoauriculovertebral spectrum attributed to the developmental anomalies of the first and second brachial arches. Its typical presentation in children with hemifacial microsomia poses a dual challenge for the anaesthesiologist on account of difficult airway often compounded with systemic abnormalities. Case report: We describe a case report wherein a 5 year female presented to the oculoplastic clinic of our hospital for surgical removal of limbal dermoid under general anaesthesia. Airway examination revealed classical facial asymmetry with underdevelopment of jaw bone coupled with protruding incisors. A predicted difficult airway, more so in a child led us to choose an anaesthesia technique with preservation of spontaneous breathing and planned use of supraglottic device in the form of an I Gel for airway management. Conclusion: The aim of this case report is to highlight the anaesthetic implications of this not so uncommon entity presenting to ophthalmology and ENT clinics. A thorough preoperative assessment, adequate preparedness and alternative plans are keys for successful airway management in such syndromic children. Keywords: Goldenhar syndrome, hemifacial microsomia, I Gel

Treacher collins syndrome

Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. Incidence of this syndrome is approximately 1 in 50,000 live births and it affects both genders equally. TCS affects structures which are derivatives of the first and second brachial arches which was also observed in this patient presenting with antimongoloid slanting of the palpebral fissures, colobomas of the lower eyelid, hypoplasia of zygoma and mandible, and an ear abnormality. This article describes clinical features of TCS in a 21-years-old boy. Keywords: Condylar hypoplasia, Hypoplastic maxilla, Hypoplastic zygoma, Treacher Collins syndrome.

A Rare Case of Parotid Swelling Presenting as Branchial Cleft Cyst.

First brachial cleft cyst arise due to incomplete fusion of first and second brachial arches. It is classified into type 1, which is thought to arise from the duplication of the membranous external ear canal and are composed of ectoderm only, and type 2 that have both ectoderm and mesoderm which presents as parotid swelling. As it is rare it is easily misdiagnosed and mismanaged. First branchial cleft cyst are rare causes of parotid swellings as in this case reports.

Velopharyngeal Insufficiency in Craniofacial Microsomia: Prevalence, Diagnosis, and Treatment

BACKGROUND: Craniofacial microsomia (CFM) is characterized by malformations of facial structures that are derived from the first and second brachial arches. Although hearing, occlusion, and facial paralysis are the most typical functional considerations for CFM, abnormalities in speech, including velopharyngeal insufficiency (VPI), have also been sparingly reported in several studies. As a result, the purpose of this multicenter study was to analyze the prevalence and management of VPI in patients with CFM. Furthermore, this study sought to investigate the effects of concomitant cleft lip and/or palate (CL/P) on VPI in CFM patients. METHODS: A retrospective chart review of patients from the University of California, Los Angeles Craniofacial Clinic and the Orthopaedic Institute for Children in Los Angeles was conducted. Inclusion criteria included patients who were diagnosed with CFM, first and second brachial arch syndrome, oculo-auriculo-vertebral sequence, facio-auriculo-vertebral syndrome, or Goldenhar syndrome. Patients with isolated microtia were excluded from this study. Included CFM patients were stratified based on the presence or absence of CL/P, and all patients were evaluated for VPI, methods of diagnosis, speech therapy, and surgery. All patients received at least 1 thorough evaluation by a speech pathologist and were diagnosed clinically with VPI if they were noted to have any hypernasal speech, nasal air emission, or nasal turbulence. Chi-square tests and Levene’s test (P ≤ 0.05) were used for analysis. RESULTS: Overall, 78 patients with CFM (48 males, 61.5%) were assessed for VPI, aged 4–34 years old at time of review. In the entire cohort, 22 (28.2%) patients were found to be diagnosed with VPI. Of the 78 patients, 8 (10.3%) patients had concomitant CL/P. Of the 70 CFM patients without CL/P, 14 (20.0%) had VPI. Eight (57.1%) of these patients were recommended for nasoendoscopy, whereas none of these patients required any corrective VPI surgery. Comparatively, all 8 CFM with CL/P patients were diagnosed with VPI and recommended for nasoendoscopy, significantly higher rates than those without CL/P. Furthermore, 6 (75.0%) of these patients eventually underwent VPI surgery, significantly more than those without CL/P. CONCLUSIONS: This study establishes an overall rate of VPI in CFM at 28.2%, with the largest cohort of CFM looking into VPI in the literature. All of the CFM patients with CL/P had VPI, with a majority requiring surgery, compared with only a fifth of CFM patients without CL/P having VPI and none needing surgery. Findings from this study highlight VPI as a common problem in CFM patients who should be diagnosed and managed early on. In addition, this study displays CL/P as a risk and severity factor for VPI.

Plausible occupational impact on familial Treacher–Collins syndrome: Dental findings and management

Treacher–Collins syndrome (TCS) is a disorder of autosomal dominant inheritance commonly linked to the mutation of human gene TREACLE (Treacher–Collins–Franceschetti 1). It primarily affects the structures derived from the first and second brachial arches by leading to neuroepithelial cell apoptosis and failure of neural crest cell migration. TCS commonly presents with anomalies of zygoma, mandible, and ears with typical bird-like facies. The variation in severity is found to increase over generations and is affected by environmental factors and stochastic events. The paper presents a case of familial TCS in a mother and daughter with increased severity in the second generation; it also illustrates the correlation of occupational impact due to cumulative maternal exposure to polyvinyl acetate-based adhesive resin as an occupational hazard for over 30 years.

Anaesthetic management and challenges involved in goldenhar's syndrome; A series of two cases

Goldenhar's syndrome is a congenital defect caused by maldevelopment of the first and second brachial arch. This causes maldevelopment of the ears, nose, soft palate, mandible, and vertebral column. These patients pose a unique challenge to anesthetists in having difficult management of the airway and neuraxial blockade. This report describes two patients of Goldenhar syndrome who came for the surgery under anesthesia and their management.

Hemifacial Microsomia Caused by First and Second Brachial Arch Syndrome Treated with Orthodontic Approach: A Case Report

To present a growing patient with unilateral mandibular hypoplasia and microtia involved in the first and second branchial arch syndrome (FSBAS) treated with functional appliance. The FSBAS comprises several developmental facial hypoplasia in ear and maxillofacial bones, resulting in hemifacial microsomia. Treatment for hemifacial microsomia varies greatly depending on the grade of mandibular deformities. Functional appliance treatment during growth period is available for mild to moderate mandibular deformities. However, there are few reports of hemifacial microsomia treated with functional appliance. The patient, an 8-year-and-5-month-old girl, had a chief complaint of mandibular deviation. She had been diagnosed with the FSBAS at birth. Her facial profile was straight and panoramic radiograph indicated that the mandibular ramal height of the affected side was about 60.4% compared to the unaffected side. The occlusal cant was 6°, and the right maxilla and mandible showed severe growth deficiency. At the age of 10 years, functional appliance with expander was used; for 2 years 6 months, the maxillomandibular growth was controlled and from panoramic radiograph, the ramus height of the affected side was increased to 65.0% compared to the unaffected left mandibular ramus. At the age of 12 years and 8 months, multibracket treatment was initiated. After 32 months of active treatment, proper occlusion with functional Class I canine and molar relationships was obtained, although facial asymmetry associated with the difference of ramus heights still existed. The resulting occlusion was stable during 1.5-year retention period. Our results indicated the importance of orthopedic treatment during growth period in the patient with hemifacial microsomia involving the FSBAS. This report proposes an efficacy of conventional orthodontic treatment for growing patients with hemifacial microsomia involved in the FSBAS.

Dermal-Fat Graft for Facial Contouring in Patients With Craniofacial Microsomia.

Craniofacial microsomia (CFM) is a variable craniofacial malformation, related to the development of the structures originated from the first and second brachial arches, affecting skeletal tissue, soft tissue, and neuromuscular components. In the situation of subcutaneous tissue and chewing muscles hypoplasia, free tissue transfer is a treatment option. Dermal-fat graft allows easy modeling during surgery, volumetric gain and improvement of asymmetry. The aim of this study was to evaluate the facial contour and the percentage of symmetry after the use of dermal-fat graft in patients with CFM, who had already submitted to osteotomies, attended at the Associate Center for Cleft Lip and Palate (CAIF) during 2001 to 2018. For analysis, the authors selected 17 patients who fulfilled the above prerequisites. The symmetry study was done by the analysis of preoperative and postoperative photographs in the Image J software. Two standard points were used: nasal base and upper lip limit. On the nasal base, the preoperative analysis showed a hypoplastic side with a median of 93.00% of the normal side size, rising to 97.78% in the postoperative period. On the upper lip limit, the preoperative analysis showed a median of 87.80% and, in the postoperative period, 98.15%. Analysis of the interaction between the operative moments and the modified Pruzansky classification showed that there were no significant differences between grades. Long-term evaluation demonstrated that the use of a dermal-fat graft for correction of facial symmetry was effective and close to 100%, regardless of the degree of hypoplasia of the patient.

Craniofacial Microsomia: Orthodontic Surgical Treatment of Growing Patients

Craniofacial microsomia covers a set of morphogenetic anomalies that affect structures arising from the first and second brachial arches. Due to the vast phenotypic variation and complexity of the malformation, a global treatment that is coordinated by a multidisciplinary team is imperative. Herein, the authors describe 3 clinical patients and discuss the different therapies used according to the type of microsomia present. It was concluded that early and integrated treatment, which considers all the affected and potentially affected soft and hard tissue, is needed, and that patients must be monitored until they have finished growing.

Clinical and Radiological Evaluation of Franceschetti Syndrome (Treacher Collins Syndrome): A Rare Case Report

Franceschetti Syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It affects structures which are derivatives of the first and second brachial arches. It has a characteristic facial appearance as a result of hypoplasia of facial bones, accompanied by ear, eye and nose abnormalities and positive coloboma sign. This article describes clinical and radiographic features of this syndrome in a 22 year old male who reported to our department with the complaint of pain in his left upper back and right lower back tooth region showing incomplete clinical form of Franceschetti syndrome. Also pathogenesis, diagnosis, prevention, management are discussed.

SIMULATION ANALYSIS OF BLOOD FLOW IN ARTERIES OF THE HUMAN ARM.

Arteries in the upper limb play important roles in the circulation system of the human body. In particular, the radial artery has received considerable attention in traditional Chinese medicine for thousands of years. Here, a 3D model for the arm arteries has been created uncomplicated, in a Chinese adult's left hand, from the magnetic resonance imaging data, using professional modeling software to restore the basic structure of the arm artery in human body, before being imported to Ansys software for simulation. Blood model has been only simulated, and using the blood density of constant parameter and viscosity using the Carreau fluid model, and using viscous-laminar model of Fluent to obtain the velocity profile, static pressure and shear stress in the brachial, interosseous, ulnar, radial and palmar arch arteries. In particular, the brachial and bifurcations have the high pressure and velocity profiles. The simulation results obtained here are also validated by those published in the literature and proved the ulnar artery prevails over the radial artery as a blood supplier to the vessels in the wrist and hand.

Treacher collins syndrome - Report of a classical case

Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. Incidence of this syndrome is approximately 1 in 50,000 live births and it affects both genders equally. This article describes clinical features of TCS in a 12-year-old female who had reported to the Department of Oral Medicine and Radiology. TCS affects structures which are derivatives of the first and second brachial arches which was also observed in this patient presenting with antimongoloid slanting of the palpebral fissures, colobomas of the lower eyelid, hypoplasia of zygoma and mandible, and an ear abnormality.

Myosin Heavy Chain Expression Can Vary over the Length of Jaw and Leg Muscles

Muscle fiber type classification can be determined by its myosin heavy chain (MyHC) composition based on a few consecutive sections. It is generally assumed that the MyHC expression of a muscle fiber is the same over its length since neural stimulation and systemic influences are supposed to be the same over its length. We analyzed this in detail in three muscle types: the temporalis (closer) and digastricus (opener; both first brachial arch), and the medial gastrocnemius (somite). Sections of the muscles were incubated with monoclonal antibodies against various MyHC isoforms, and the distribution of these isoforms within individual fibers was followed over a distance of approximately 1 mm. The staining intensity of a fiber was measured and compared with the other fibers in the section. In the temporalis, digastricus, and gastrocnemius, 46, 11, and 15%, respectively, of their MyHC-I fibers showed a variation in the staining intensity over the length of their fibers, as well as 47, 87, and 22%, respectively, of their MyHC-IIA fibers. Most variable fibers were found amongst those with an overall relative intermediate staining intensity, which are presumably hybrid fibers. We conclude that different parts of a muscle fiber can have different fiber type compositions and, thus, contractile properties. Some muscle parts might reach their maximum contraction peak sooner or later than a muscle part a few microns further away. Next to stimulation by the nerve and systemic influences, local influences might also have an impact on the MyHC expression of the fiber.

Role of Genes in Odontogenesis

With the discovery of the homeobox genes in craniofacial biology researchers across the globe have studied in depth the genetic patterning of the craniofacial region. With respect to craniofacial development ‐, Barx, Dlx, Gsc, Lim, Msx, Otx, Prx; part of the Hox cluster are important. Barx gene are strongly expressed only in the mesenchyme of the developing molars. Dlx gene expression is noted in the mandibular and maxillary arch ectomesenchyme. Msx genes are expressed in the area of epithelial mesenchymal interactions in the brachial arches in the area of future dentition and also expressed in the formation of skull, facial primordial and sense organs. Msx-1 is seen to be expressed in various stages of tooth formation i.e bud and cap stage of organogenesis. Lim genes which control morphogenesis of the first brachial arch, are expressed in the maxillo-mandibular ectomesenchyme. Prx gene expression is seen in the proximal portion of the mandibular arch. The role of hox genes in the morphogenesis of the jaws and the dentition is immense. Thus it has been proved beyond doubt that the genes have a major role in organogenesis than what human beings have ever envisaged. This review will give the scientific community an overview of all the genes affecting odontogenesis.

Goldenhar-Gorlin syndrome: A rare case report with review of literature

Goldenhar-Gorlin syndrome (GGS) is a rare developmental anomaly, characterized by numerous anomalies affecting the first and second brachial arches which results in hemifacial atrophy in majority of cases (85%) and associated with cervical spine vertebral deformities, cardiovascular malformation, and sternocleidomastoid muscle abnormalities. Hereby, we report such a rare case of GGS in a 20 year old male patient, with all these classical features.