Branchial Arch Syndrome Research Articles

Goldenhar Syndrome Complicated by Hemifacial Microsomia and Unilateral Cleft Palate Absence.

Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum (OAVS) or hemifacial microsomia (HFM), is characterized by developmental anomalies in structures such as the eyes, ears, upper jaw, lower jaw, upper palate, and spine. The facial abnormalities, stemming predominantly from branchial arch malformation, are sometimes categorized as the first and second branchial arch syndromes. Its incidence is estimated to be ∼1 in 3500. Here, the authors present a case of Goldenhar syndrome in a male infant at the age of 10 months, showcasing a particularly unique manifestation of cleft palate, for which we employed myomucosal flap reconstruction of the soft palate.

Sequential treatment of oral and maxillofacial deformities with hemifacial microsomia

The incidence of the first and second branchial arch syndrome namely hemifacial microsomia (HFM) is the second only to cleft lip and palate, and it is a very common craniofacial developmental deformity. This congenital condition affects the development of the orbit, ear, and mandible, and the clinical manifestations of each patient are significantly heterogeneous. Clinical treatment needs to formulate corresponding treatment measures according to different degrees of tissue deformity at different ages. This article puts forward personal suggestions for the sequential treatment of oral and maxillofacial deformities of HFM from the perspective of patient age and classification.

Grave’s disease in a case of Goldenhar syndrome

Goldenhar syndrome (GS) is a malformation complex that involves structures arising from the first and second branchial arches. Graves’ disease is an autoimmune disorder resulting in the excessive production of thyroid hormones and is the most common cause of hyperthyroidism in children. We are reporting this case since the clinical association of Graves’ disease in GS has never been reported before and is a rare association of the syndrome. An 11-year-old developmentally normal child presented to us with swelling in front of her neck for the past 6 months associated with loss of weight, increased appetite, increased frequency of defecation, and palpitations. On examination, there was diffuse swelling in the thyroid region that moved with deglutition and did not move with protrusion of the tongue. The child also had an asymmetrical face with bilateral conjunctival dermoid and bilateral preauricular skin tag and pretragal sinus tract on the left side. Hence, a provisional diagnosis of goitre with features of hyperthyroidism in a child with first and second branchial arch syndrome was considered. Technetium 99 scan confirmed diagnosis of Graves’ disease. The child was started on carbimazole and propranolol and gradual improvement in symptoms noted. Propranolol was given for 3 months until symptoms such as palpitations and anxiety subsided and then stopped. Carbimazole was continued.

A Case of First and Second Branchial Arch Syndrome Complicated with Unilateral Cleft Lip and Palate

A Case of First and Second Branchial Arch Syndrome Complicated with Unilateral Cleft Lip and Palate

Orthognathic Surgery in Goldenhar Syndrome With a Rare Course of the IAN.

Although there are multiple variations of accessory foramina described in the literature, to our knowledge there is only 1 report of an isolated mandibular foramen and inferior alveolar neurovascular bundle that courses through the lateral ramus, particularly in those with branchial arch syndromes. Goldenhar syndrome, of the oculo-auriculo-vertebral spectrum, is a rare congenital condition, which most characteristically presents with hemifacial microsomia. Depending on the severity of hemifacial microsomia, there are predictable treatment modalities to correct the consequent facial asymmetry. We report on a patient with Goldenhar syndrome who was found to have a unique course of the inferior alveolar nerve during orthognathic surgery work-up and treatment.

Anesthetic management of craniosynostosis repair in a 13-month-old boy with Apert syndrome

Apert syndrome is a congenital disorder characterized by malformations of the skull, face, hands, and feet. It is a form of acrocephalosyndactyly. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Presently described is a case of 13-month-old boy diagnosed with apert syndrome. French pediatrician Eugène Apert described Apert syndrome in 1906. The purpose of this report is anesthetic management of craniosynostosis repair in this child under general anesthesia. Craniosynostosis, the premature fusion of skull sutures, results in failure of normal bone growth perpendicular to the suture and the compensatory growth at other suture sites, which results in an abnormally shaped head. Anesthetic challenges include management of a difficult airway, airway hyperreactivity, possibility of raised intracranial pressure, blood loss, blood transfusion, and its associated complications.

Treatment for acute empyema in a patient with first and second branchial arch syndrome

Treatment for acute empyema in a patient with first and second branchial arch syndrome

Incisive Canal Cyst in an Intellectually Disabled Patient with First and Second Branchial Arch Syndrome : A Case Report

Incisive Canal Cyst in an Intellectually Disabled Patient with First and Second Branchial Arch Syndrome : A Case Report

Imaging of the Fetal Zygomatic Bone: A Key Role in Prenatal Diagnosis of First Branchial Arch Syndrome.

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. 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. 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. 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.

Proatlas anomalies in craniofacial malformations: 5-year experience in King Chulalongkorn Memorial Hospital

To review the prevalences of proatlas anomalies in craniofacial malformations and evaluate the relation between craniofacial malformation and proalast anomalies. The 221 patients with craniofacial malformation who underwent CT facial bone and 3D brain in King Chulalongkorn Memorial Hospital (KCMH). Then, the craniofacial malformed patients are classified into six groups composed of craniosynostosis, cephalocele, midface anomaly, facial and branchial arch syndrome, facial cleft face, and others. Reviewing image finding by the researcher and the radiologist advisor was done separately and gave the consensus in the case with disagreement. Qualitative analysis of the prevalence of proatlas anomalies was achieved. In addition, assessment of the relationship between craniofacial malformation and proatlas anomalies was conducted using Pearson's chi-square test to determine statistical significance. The proatlas anomalies were presented in 26 patients of 221 craniofacial malformed patients. Details of frequentative proatlas anomalies consist of pre-basioccipital arch in eight patients, os odontoideum in five patients, bony mass along the margin of foramen magnum in three patients, atlas assimilation in two patients, hypertrophic occipital condyle in one patient, third occipital condyle in one patient, and mixed characteristic of proatlas anomalies in six patients. These results represented pre-basioccipital arch and os odontoideum as the two most common presentations among proatlas anomalies and also showed significant existence of proatlas diseases in craniofacial malformation (p value = 0.006). Our results emphasize the existence of proatlas anomalies which should be carefully looked for, particularly in craniofacial malformed patients due to significant statistical correlation.

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.

A rare case of Goldenhar syndrome: oculo-auriculo-vertebral spectrum

Franceschetti-Goldenhar syndrome or Goldenhar syndrome, also known as facio-auricular-spectrum (FAV), first and second branchial arch syndrome, or Oculo-Auriculo-Vertebral (OAV) spectrum is a rare congenital malformation which encompasses various morphological and functional abnormalities. The incidence of Goldenhar syndrome has been reported between 1:3500 to 1:5600 children, with a male: female ratio of 3:23. The incidence is higher, about 1 in 1000 children with congenital deafness. The exact etiology is not known. However, it is possible that abnormal embryonic vascular supply, disrupted mesodermal migration or some other factors leads to defective formation of the brachial and vertebral system. Most of the cases have been sporadic. Autosomal dominant, autosomal recessive and multifactorial modes of inheritance have also been suggested. Chromosomal studies have not revealed any abnormality. Authors report a case of a neonate with hemifacial microsomia, bilateral cleft lip and cleft palate, right deformed pinna, right facial palsy, single umbilical artery and congenital heart disease.

A RARE CASE OF NEONATAL APERT SYNDROME

Apert syndrome is a rare Type I acrocephalosyndactyly syndrome. It is a congenital disorder characterized by premature fusionof cranial sutures (craniosynostosis), malformation of skull, hands, face, and feet. Apert syndrome has an incidence of 1/50,000to 1/80,000 live births. It is classified as a branchial arch syndrome, affecting the first branchial or pharyngeal arch, the precursorof the maxilla and mandible. Disturbances in the development of branchial arches in the fetal development create lasting andwidespread effects. It is inherited as an autosomal dominant and occurs due to the gene mutations in the receptors of the fibroblastgrowth factor. Management of Apert syndrome requires multidisciplinary approach. We, hereby, report a case of a 5‑h‑old neonatewith Apert syndrome.

AB124. Craniofacial anomalies: an experience at Siriraj Hospital

Background Craniofacial anomalies (CFA) result from interruption of normal embryologic growth and differentiation of the face and skull, and can be classified in several groups, such as branchial arch syndromes, craniosynostosis, orofacial clefts, and encephalocele. Management of CFA requires multidisciplinary team. Cranio-maxillo-facial clinic at Siriraj hospital was founded more than 15 years, and consists of experts from multiple medical and surgical specialties, such as plastic surgeon, neurosurgeon, ophthalmologist, otolaryngologist, orthodontist, and clinical geneticist.

Difficult tracheal intubation and post-extubation airway stenosis in an 11-month-old patient with unrecognized subglottic stenosis: a case report

BackgroundSubglottic stenosis can lead to life-threatening difficult tracheal intubation during general anesthesia. We report a case of difficult tracheal intubation in an 11-month-old female who had unrecognized subglottic stenosis.Case presentationThe patient was scheduled for elective correction of a right accessory auricle. She was suspected of having first and second branchial arch syndrome. Preoperative physical examination was normal. Anesthesia was induced uneventfully using sevoflurane. It was not possible to pass size 4.0, 3.5, or 3.0 cuffed endotracheal tubes due to an advanced subglottic lesion. Subsequent successful intubation was achieved using a 3.0 uncuffed tube. Stridor was audible after extubation, and the patient required several days’ treatment with dexamethasone to address respiratory distress.ConclusionsWe encountered unrecognized subglottic stenosis that led to difficult tracheal intubation and post-extubation airway stenosis.

Treatment of Hemifacial Microsomia: A Case Report

Introduction: Hemifacial microsomia (HFM) is a branchial arch syndrome and the second most common craniofacial birth defect after cleft lip and palate. This syndrome involves the facial skeleton and ear. The most important goal in treatment of HFM is to improve facial symmetry. Traditionally, segment repositioning and costochondral graft were used for the correction of mandibular asymmetry but recently distraction osteogenesis has been used for it. Case Presentation: In this article an 8-year-old boy with HFM is presented. He was treated with functional appliance for one year and then at 9 years age distraction osteogenesis was performed for him and at the age of 18, maxillary impaction (right side: 3mm, left side: 13 mm), BSSO of mandible and reduction genioplasty were done for the functional and esthetic reconstruction of the face. Conclusions: Satisfactory results were obtained in the patient.

Clinical Approach to a Suspected Case of First Branchial Arch Syndrome

First branchial arch syndrome is a congenital disorder characterized by a wide spectrum of anomalies in the first branchial arch, mainly affecting the lower jaw, ear, or mouth, during early embryonic development. We sought to confirm a suspected case of this syndrome by making differential diagnosis and taking an intensive clinical approach. A 12-year-6-month-old girl with a horizontally impacted left canine in the maxilla had the history of digital fusion in her hands and feet and has been suffering from hearing impairment of her left ear. To diagnose this case and make her careful treatment plan, we further carried out cephalometric analysis and mutation analysis. Her face looks like asymmetry and is not apparently symmetric by cephalometric analysis. Mutation analysis of the patient was conducted by direct DNA sequencing of the goosecoid gene, which is an excellent candidate for determination of hemifacial microsomia, but no changes in this gene were identified. We could not precisely diagnose this case as first branchial arch syndrome. However, certain observations in this case, including hearing impairment of the left ear, allow us to suspect this syndrome.

顎矯正手術後に気管軟化症が原因となり気道閉塞をきたした1例

Airway obstruction is a severe life-threatening perioperative complication of orthodontic surgery. Although hemorrhage and swelling are common after surgery, they are rarely caused by congenital and developmental anomalies of the airway. In the present study, we conducted orthodontic surgery on a patient with first and second branchial arch syndrome associated with bilateral cleft lip, who subsequently developed airway obstruction that might have been caused by an airway malformation. The patient was a 28-year-old male for whom orthodontic surgery for marked mandibular deviation was planned. Surgery involved corticotomy of the anterior maxillary alveolar region and sagittal split ramus osteotomy. After surgery and upon removal of the endotracheal tube, the subject developed wheezing and cyanosis, and so emergency tracheotomy was performed. However, in addition to the airway malformation, left deviation was observed, which made it difficult to clearly visualize the airway. Furthermore, the tracheal cartilage was fragile and easily deformed due to pressure of the flat trachea. After clearly visualizing the airway, an incision was made using a scalpel, which was very easy to perform, similar to making an incision along a blood vessel wall. Tracheomalacia has been described as a possible congenital complication of first and second branchial arch syndrome and the findings in the present case suggest that acquired tracheomalacia was the etiology. In future, after assessing any combined malformations, thorough preoperative evaluations including the airway should be conducted, and preventive tracheotomy should be performed as a postoperative management scheme when necessary, with the consent of the patient.

Hyperbaric oxygen treatment of unexpected mandibular bone necrosis after orthognathic surgery in a patient with hemifacial microsomia

Hemifacial microsomia is a congenital disorder occurring in 1:5600, characterized by unilateral underdevelopment of the lower half of the face. It is primarily a syndrome of the first branchial arch. Patients with first branchial arch syndromes may also have cardiovascular defects. A 23-year-old female patient with hemifacial microsomia had undergone surgery, with the purpose of correcting her dental occlusion and to diminish snoring and facilitate breathing. After orthodontic correction, osteotomies of the maxilla and mandibula were planned. Shortly before the planned surgery, the patient experienced apoplexia. The patient underwent Le Fort I osteotomia and insertion of osteosynthesis plates. Two months after surgery, the occlusion was altered, indicating a dislocation of the osteosynthesis material and mandibular fracture, which was confirmed radiologically. During the following replacement of osteosynthesis material, the lateral part of the mandibular cortex showed comprehensive necrosis, and a large sequestrum was removed. Some weeks later, a large skin necrosis developed adjacent to the extaoral incision, and the patient was referred to the HBO unit. The patient was then treated with 28 hyperbaric oxygen exposures. After hyperbaric treatment, the patient healed completely. At a surgical intervention more than 1 year later, the osteosynthesis material was still osseointegrated. Although insufficient vascularity and consequent necrosis may not be expected in the mandible of a patient with hemifacial microsomia, attention should be drawn to the fact that facial vessels may also be underdeveloped. Hyperbaric oxygen may be considered as a treatment option in similar cases.

Goldenhar 症候群患児の下顎骨単独延長術術後に長期観察した1例 − 10年経過時の評価 −

Goldenhar syndrome is a disease characterized by a mandibular hypoplastic defect as the main sign, associated with a bulbar conjunctiva epidermoid tumor and backbone malformation resulting from the first and second branchial arch syndrome. Approximately 70% of patients present with unilateral symptoms, resulting in facial asymmetry. Since hypoplasia of the mandible is the main feature of this syndrome, mandibular distraction osteogenesis is suitable for treatment of this syndrome.We describe an 8-year-2-month-old boy with Goldenhar syndrome. His mandible was Type IIa according to the Pruzansky-Kaban classification. We initially perfomed mandibular distraction osteogenesis to acquire facial symmetry. Then, occlusal plane inclination due to the secondary maxillary deformation was prevented by orthodontic treatment. He was followed up for 10 years with no particular relapse.