Oculo auriculo vertebral spectrum and CHARGE association.

A boy in his early childhood was brought for a comprehensive eye examination as advised by a paediatrician. The child had plagiocephaly, absent left ear (anotia), facial asymmetry, deviation of mouth to the left side, receding chin and teeth, scoliosis and a Mongolian spot on the lower back. There was also absence of seventh and eighth cranial nerves on the left side on MRI of the brain. Echocardiography showed a small ventricular septal defect and a single umbilical artery. Gross motor milestones were delayed and on ocular examination, the child showed right eye preference and retinochoroidal coloboma in the left eye. The child was managed with a multidisciplinary approach involving the paediatrician, ENT specialist, ophthalmologist, clinical geneticist and rehabilitative services. The child was managed conservatively with spectacles and occlusion therapy of the right eye, and genetic counselling was given along with a left hearing aid and rehabilitation.

[Multidisciplinary management with neuromuscular electrical stimulation therapy in a Goldenhar syndrome patient who presented swallowing disorder and failure to thrive.] / Manejo multidisciplinario con terapia de electroestimulación en un paciente con síndrome de Goldenhar, trastorno de la deglución y falla para crecer.

INTRODUCCIÓN: El síndrome de Goldenhar es un trastorno heterogéneo, esporádico en su mayoría o por patrón de herencia autosómico dominante o recesivo, de la morfogénesis craneofacial asociada al primero y segundo arcos faríngeos, y forma parte del espectro oculoauriculovertebral. La incidencia es de 1 por cada 3500-45,000 recién nacidos vivos, con una razón de sexo masculino/femenino de 3:2. CASO CLÍNICO: Se presenta el caso de un recién nacido con fenotipo de síndrome oculoauriculovertebral. Se abordó con radiografía de tórax, ecografía abdominal y tamizaje metabólico y auditivo, que reportaron hemivértebra torácica, fusión costal, quiste renal e hipoacusia bilateral profunda, respectivamente. Fue alimentado con lactancia mixta desde el nacimiento, sin lograr una succión adecuada y con pérdida de peso. A los 3 meses de edad recibió terapia de rehabilitación oral con electroestimulación en conjunto de 10 sesiones con 10 mA de intensidad, al igual que a los 23, 24, 25, 27, 30 y 32 meses de edad. A los 4 meses, espesamiento de fórmula con cereal; a los 7 meses, sonda de gastrostomía; a los 20 meses, cirugía de paladar y macrostomía. Mostró mejoría en intensidad de babeo en las primeras 10 sesiones y mejoría en la deglución a las 30 sesiones. A los 3 años de edad consume el 100% de los alimentos por vía oral. CONCLUSIONES: Con la escasa evidencia científica que este caso aislado aporta, el tratamiento con la terapia de rehabilitación en conjunto con la terapia convencional y la corrección anatómica dio resultados positivos para el trastorno de la deglución. BACKGROUND: Goldenhar syndrome is a heterogeneous disorder, mostly sporadic or due to a dominant autosomal or recessive pattern of inheritance, that exhibits craniofacial morphogenesis associated with the first and second pharyngeal arches and is part of the oculoauriculovertebral spectrum. Its incidence is of 1 in 3,500-45,000 live newborns, with a male to female ratio of 3:2. CASE REPORT: We describe the case of a male newborn with oculoauriculovertebral syndrome phenotype. It was approached with chest X-ray, abdominal ultrasound, metabolic and hearing screening, which reported thoracic hemivertebra, costal fusion, renal cyst, and profound bilateral hypoacusis, respectively. Although the newborn was fed with mixed lactation from birth, adequate suction and with weight loss were not achieved. At 3 months of age, as well as at 23, 24, 25, 27, 30 and 32 months of age, the infant received oral rehabilitation therapy with electrostimulation in a set of 10 sessions with 10 mA intensity. At 4 months, thickening of formula with cereal; at 7 months, gastrostomy tube; at 20 months, palate surgery and macrostomy. Improvement in drooling intensity was observed during the first 10 sessions, and improvement in swallowing after 30 sessions. At 3 years of age, the patient consumes 100% of food orally. CONCLUSIONS: According to limited scientific evidence that this isolated case provides, rehabilitation therapy together with conventional therapy coupled with anatomical correction gave positive results for swallowing disorder.

What is the impact of distraction osteogenesis on the upper airway of hemifacial microsomia patient with obstructive sleep apnea: a case report.

BACKGROUND: Current research about hemifacial microsomia (HFM) patients after distraction osteogenesis (DO) most emphasize the morphologic changes. This case report shows the outcome of DO on the upper airway of a HFM patient with obstructive sleep apnea (OSA) based on the use of computational fluid dynamics (CFD). CASE PRESENTATION: An 11-year-old boy was diagnosed as HFM with OSA, and underwent unilateral DO. Polysomnography and CT scans were performed before and 6 months after treatment. After DO, lowest blood oxygen saturation increased from 81% to 95% and apnea and hypopnea index decreased from 6.4 events/hour to 1.2 events/hour. The oropharynx and nasopharynx were obviously expanded. We observed apparently increased average pressure, decreased average velocity and pressure drop in all cross-sections, and largely decreased airflow resistance and maximum velocity entirely in the airway. CONCLUSIONS: The results suggest that DO might be effective for the treatment of OSA by expanding the upper airway and reducing the resistance of inspiration.

Treatment of hemifacial microsomia using conventional orthodontic techniques: Report of a case with long-term follow-up.

BACKGROUND AND OVERVIEW: The authors successfully treat a case of hemifacial microsomia involving unilateral condylar hypoplasia using conventional orthodontic techniques followed by long-term retention. CASE DESCRIPTION: A girl aged 10 years and 2 months received a diagnosis of hemifacial microsomia resulting from unilateral condylar hypoplasia. During a growth period, premature incisal contact was abolished. After her growth was complete, she received conventional orthodontic treatment with preadjusted edgewise appliances. After 27 months of multibracket treatment, acceptable occlusion with a class I canine and molar relationship was achieved. The occlusion remained stable throughout the 15-year retention period, although there was a slight facial change. CONCLUSIONS AND PRACTICAL IMPLICATIONS: Early orthodontic management only can have some limitations but could be one of the treatment options for hemifacial microsomia.

Scoliosis in Goldenhar syndrome with curve reversal during brace treatment: a case report.

BACKGROUND: Goldenhar syndrome sometimes displays progressive scoliosis and other spinal deformities that require treatment. However, few reports exist on scoliosis correction in Goldenhar syndrome. We described the rare radiological outcomes of a patient with Goldenhar syndrome who received brace treatment for scoliosis. CASE PRESENTATION: A 4-year-old boy was diagnosed as having Goldenhar syndrome and referred to our hospital for scoliosis treatment. The deformity deteriorated gradually, and left convex scoliotic angle was 26 degrees (T3-L2) at 11 years of age. Unexpectedly during treatment with an orthopedic brace, the curve had reversed to 21 degrees (T5-L2) at 7 months of therapy. After another adjustment of the brace, his right convex scoliotic angle improved to 13 degrees (T4-L2) at 15 months of treatment. CONCLUSIONS: Curve reversal may occur during brace treatment for scoliosis in Goldenhar syndrome. Clinicians may opt to periodically check curve correction despite the risk of increased radiation exposure.

Hemifacial microsomia treated with a hybrid technique combining distraction osteogenesis and a mandible-guided functional appliance: Pilot study.

INTRODUCTION: The purpose of this study was to evaluate the therapeutic effect of a hybrid treatment for hemifacial microsomia that combines distraction osteogenesis and a mandible-guided functional appliance to correct mandibular asymmetry. METHODS: This was a retrospective analysis of 10 patients with unilateral hemifacial microsomia who underwent mandibular ramus distraction osteogenesis in our hospital from February 2013 to July 2015. The cases were classified into 2 comparison groups: 5 patients were in the MG-DO group (distraction osteogenesis combined with an mandible-guided functional appliance) and 5 in the control group (distraction osteogenesis only). Anteroposterior cephalometric analyses were conducted before and after treatment. Soft tissue symmetry and the occlusal relationship were observed from facial and intraoral photographs. Statistical analyses were performed to determine changes between before and after treatment as well as intergroup differences. RESULTS: The MG-DO group showed greater vertical elongation of the mandibular ramus and less overcorrection and mandibular deviation than the control group. Occlusal reconstruction was enabled by the mandible-guided functional appliance owing to a decrease in lateral shifting. The symmetry of both skeletal and soft tissues was significantly improved in the MG-DO group. CONCLUSIONS: The hybrid technique combining distraction osteogenesis and the mandible-guided functional appliance proved to be effective in correcting canting and deviation during mandibular elongation, which improved facial symmetry and occlusal balance in patients with hemifacial microsomia.

In Their Own Words: Caregiver and Patient Perspectives on Stressors, Resources, and Recommendations in Craniofacial Microsomia Care.

This study describes stressors, resources, and recommendations related to craniofacial microsomia (CFM) care from the perspective of caregivers of children with CFM and adults with CFM to inform improved quality of healthcare delivery. A mixed method design was used with fixed-response and open-ended questions from an online survey in English. The survey included demographics, CFM phenotypic information, and items about CFM-related experiences across settings. Themes were identified by qualitative analysis of responses to open-ended questions. Respondents (n = 51) included caregivers (n = 42; 90% mothers) and adults with CFM (n = 9; 78% female), who had a mean age of 45 ±â€Š6 years. Most children were male (71%) with an average age of 7 ±â€Š4 years. Respondents were primarily white (80%), non-Hispanic (89%), from the United States (82%), had a college degree (80%), and had private health insurance (80%). Reflecting the high rate of microtia (84%) in the sample, themes centered on the impact of hearing difficulties across settings with related language concerns. Negative social experiences were frequently described and school needs outlined. Multiple medical stressors were identified and corresponding suggestions included: providers need to be better informed about CFM, treatment coordination among specialists, and preference for a family-centered approach with reassurance, empathy, and clear communication. Advice offered to others with CFM included positive coping strategies. Overall, caregivers' and patients' responses reflected the complexity of CFM treatment. Incorporating these perspectives into routine CFM care has the potential to reduce family distress while improving their healthcare.

Multidisciplinary management of oculo-auriculo-vertebral spectrum.

PURPOSE OF REVIEW: Oculo-auriculo-vertebral spectrum (OAVS) is a complex disorder that is represented by wide variations in phenotypic presentation. Recent publications and systematic reviews of the available literature are presented here. RECENT FINDINGS: Treatment strategies vary among craniofacial centers across the country. Advances in presurgical planning, virtual surgical planning, and computer-aided manufacturing have been incorporated in the treatment of patients. The psychosocial effect of OAVS with longitudinal follow-up is now being studied. SUMMARY: Optimal evaluation and management of the OAVS patient requires an awareness of the phenotypic and genetic differences and involves a multidisciplinary team in order to effectively and appropriately diagnose and treat such patients.

Anomalous Extratemporal Facial Nerve in Oculoauriculovertebral Spectrum.

Facial nerve dysfunction is common in oculoauriculovertebral spectrum (OAVS). However, the course of the nerve has rarely been described. A 23-year-old woman with OAVS underwent excision of microtic ear remnants in preparation for an osseointegrated prosthesis and suffered iatrogenic transection of the facial nerve-the pes anserinus was within the subcutaneous tissue 15 mm posterior and 15 mm cephalad to the external acoustic meatus. The patient underwent primary nerve repair and regained nearly complete preoperative function. When considering reconstruction for OAVS patients, clinicians should have a high index of suspicion for anomalous facial nerve anatomy.

Healthcare and psychosocial experiences of individuals with craniofacial microsomia: Patient and caregivers perspectives.

OBJECTIVE: Craniofacial microsomia (CFM) is primarily characterized by underdevelopment of the ear and mandible, with several additional possible congenital anomalies. Despite the potential burden of care and impact of CFM on multiple domains of functioning, few studies have investigated patient and caregiver perspectives. The objective of this study was to explore the diagnostic, treatment-related, and early psychosocial experiences of families with CFM with the aim of optimizing future healthcare delivery. METHODS: Forty-two caregivers and nine adults with CFM responded to an online mixed-methods survey. Descriptive statistics and qualitative methods were used for the analysis. RESULTS: Survey respondents reported high rates of subspecialty evaluations, surgeries, and participation in therapies. Some participants reported receiving inaccurate or incomplete information about CFM and experienced confusion about etiology. Communication about CFM among family members included mostly positive messages. Self-awareness of facial differences began at a mean age of three years and teasing at mean age six, with 43% of individuals four years or older reporting teasing. Teasing often involved name-calling and frequent reactions were ignoring and negative emotional responses. Participants ranked "understanding diagnosis and treatment" as a top priority for future research and had the most questions about etiology and treatment guidance. CONCLUSIONS: The survey results on the healthcare and psychosocial experiences from birth through adulthood of individuals with CFM reinforce the need for ongoing psychological assessment and intervention. Healthcare provision could be improved through establishing diagnostic criteria and standardized treatment guidelines, as well as continued investigation of CFM etiology.

Goldenhar syndrome: current perspectives.

BACKGROUND: Progress in medical branches that has taken place since the first child with Goldenhare syndrome (GS) had been described in 1952 by Maurice Goldenhar, facilitated better understanding of this congenital defect. It also gave new perspectives and the opportunity to achieve satisfactory treatment results, mainly due to development of surgical techniques. DATA SOURCES: Based on the literature and own experience, we discussed the phenotype of presentation of GS, ethiopathogenesis, genetic counselling and treatment with particular emphasis on surgery correction of hemifacial microsomia. RESULTS: The spectrum of GS abnormalities ranges from mild to severe ones and include patients with barely noticeable facial asymmetry to very pronounced facial defect with more or less severe abnormalities of internal organs and/or skeleton. It is characterized most commonly by impaired development of eyes, ears, lips, tongue, palate, mandible, maxilla, zygomatic and orbital structures and deformations of the teeth structures. Ethiopathogenesis is multifactorial and dependent on genetic and environmental factors but there are still many unknowns about the syndrome which should be revealed. CONCLUSIONS: Patients with GS due to a large variety of abnormalities and different severity of symptoms pose a challenge for clinicians. All of this necessitate an individual approach to each single patient and involvement a team of specialists in treatment planning. It is a complex, long-lasting, multidisciplinary process and should be divided into stages, according to patient's age, as well as the extent and severity of observed abnormalities. Neonatologists and pediatricians are involved in care of these patients from the onset.

Goldenhar syndrome: Cardiac anesthesiologist's perspective.

Goldenhar syndrome or oculo-auriculo-vertebral dysplasia was defined by Goldenhar in 1952 and redefined by Grolin et al. later. As the name denotes, children with this syndrome present with craniofacial and vertebral anomalies which increase the risk of airway compromise. Neonates and infants with this syndrome often have premature internal organs, low birth weight, and airway disorders. For this reason, safe anesthesia in such infants requires a complete knowledge regarding metabolism and side effects of the drugs. The association of cardiovascular abnormalities is not uncommon and possesses additional challenge for anesthetic management. The aim of this review is to draw attention to the various perioperative problems that can be faced in these infants when they undergo surgery or the correction of the underlying cardiac problem.

Bone-anchored hearing aid implantation in a patient with Goldenhar syndrome.

Patients with Goldenhar syndrome exhibit a number of characteristic symptoms, including middle and internal ear malformations that may cause profound hearing loss. Bone-anchored hearing aids have been used to treat these patients in the past, although complications may arise due to the nature of the disease. Herein we present the case of a pediatric patient with Goldenhar syndrome whose hearing aid abutment extruded spontaneously because of poor bone quality, despite adequate thickness. We provide a brief review of the literature and suggest a flexible surgical plan for any syndromic pediatric patient.

Craniofacial malformations and the orthodontist.

This review article presents an overview of craniofacial malformations and the role of the orthodontist in their management. The first part of this article focuses on cleft lip and palate, followed by more complex deformities including craniosynostosis and craniofacial microsomia. The main features of these anomalies are discussed as well as the clinical problems seen in this group of patients. The emphasis is on the role of the orthodontist in the multi-disciplinary management of these cases.

Goldenhar syndrome - a case report.

Goldenhar syndrome is a developmental abnormality of 1st & 2nd branchial arch involving the craniofacial microsomia with ocular & vertebral abnormality. Though most of the cases are sporadic, some familial association is also found in autosomal dominant or recessive manner. Teratogenic effect of some toxic substances may lead to the condition. Ocular abnormalities are epibulbar dermoid, lipodermoid & coloboma. Otic defects are preauricular tags, microtia, anotia & conductive hearing loss. Cardio-pulmonary & genitourinary abnormalities are common associations. Here we have described the case of a 10 years old girl had ocular, auricular & vertebral changes consistent with Goldenhar syndrome, she was managed with multidisciplinary approach and she was symptomatically improved but corrective surgery was planned as schedule of respective department.

Influence of congenital facial nerve palsy on craniofacial growth in craniofacial microsomia.

Facial muscles are of major importance in human craniofacial growth and development. The purpose of our study was to investigate whether congenital facial nerve palsy influences craniofacial growth in craniofacial microsomia. Fifty-one patients with unilateral craniofacial microsomia and no history of craniofacial skeletal surgery whose radiographs were taken after craniofacial growth was complete were included in this study. These patients were divided into groups in which the facial nerve was involved or uninvolved. The authors evaluated a total of seven measurement items to analyze the midface and mandibular asymmetry. Twenty patients had facial nerve involvement, and 31 had no involvement. None of the measurement items revealed any significant differences between the facial nerve-involved group and the uninvolved group within the same modified Pruzansky grade. There was no correlation between the type of facial nerve involvement and the measurement items. In relationships among the measurement items within each group, maxillary asymmetry was indirectly correlated with mandibular asymmetry or midline deviation through the occlusal plane angle in the uninvolved groups. However, in the facial nerve-involved group, the relationships disappeared. When the correlations in the facial nerve-involved group were compared with those of the uninvolved group, the relationships in the uninvolved group appeared more significant than in the facial nerve-involved group. The loss of relationships between the upper and lower jaw in the facial nerve-involved group might have been caused by subtle changes, which occur in midfacial bones and in the mandible due to facial nerve palsy. The main limitation of our study is that aside from facial nerve palsy, craniofacial microsomia has many factors that can influence craniofacial growth, such as hypoplasia of the mandibular condyle and soft tissue deficiencies.

Adult patient with hemifacial microsomia treated with combined orthodontics and distraction osteogenesis.

Distraction osteogenesis is an alternative treatment option for patients with facial asymmetry and mandibular hypoplasia. New bone is formed between bone segment surfaces that are gradually separated by incremental traction. The purpose of this article is to report the treatment of a 22-year-old man with hemifacial microsomia, facial asymmetry, and a skeletal Class II profile. The patient's left mandibular ramus was lengthened with distraction osteogenesis, and miniscrew-assisted rapid palatal expansion was used to correct the maxillary transverse deficiency. Postoperative orthodontic treatment achieved tooth alignment and closure of the posterior open bite. The total treatment period was 27 months. These therapeutic treatments improved the patient's facial appearance.

Clinical care in craniofacial microsomia: a review of current management recommendations and opportunities to advance research.

Craniofacial microsomia (CFM) is a complex condition associated with microtia, mandibular hypoplasia, and preauricular tags. It is the second most common congenital facial condition treated in many craniofacial centers and requires longitudinal multidisciplinary patient care. The purpose of this article is to summarize current recommendations for clinical management and discuss opportunities to advance clinical research in CFM.

Tratamiento multidisciplinario del Síndrome de Goldenhar: reporte de caso / Multidisciplinary treatment Goldenhar Syndrome: case report

Los síndromes polimalformativos se refieren a un patrón de anomalías multiples con relación patogénica entre sí, sin que representen una secuencia; el Síndrome Goldenhar es de rara aparición, ha sido identificado como una displasia óculo-aurículo-vertebral, su severidad y pronóstico están directamente relacionados con problemas derivados de las malformaciones. Se reporta el caso de un paciente masculino de 13 años de edad con diagnóstico de Síndrome Goldenhar, y antecedente de labio y paladar fisurado pre-foramen unilateral derecho (clasificación de Spina), ausencia de pabellón auricular izquierdo y parálisis facial leve del lado izquierdo. Se planteó un tratamiento multidisciplinario ortodoncico-quirúrgico, La atencion de pacientes sindrómicos requiere del análisis de las características del síndrome para que el clínico pueda establecer sus objetivos y limitaciones en cuanto a planificación de tratamiento. El abordaje de las malformaciones asociadas a un síndrome debe realizarse en una secuencia lógica y bien analizada con el fin de brindar al paciente un tratamiento eficaz y eficiente.

Polymalformation syndromes refer to a pattern of multiple anomalies pathogenic relationship with each other, without representing a sequence; the Goldenhar syndrome is very rare and has a weak genetic component, it has been identified as an oculo-auriculo-vertebral dysplasia and its severity and prognostic is related to the malformations problems. This case describes a 13 years old male patient diagnosed with Goldenhar syndrome which records show a history of cleft lip and palate right unilateral pre-foramen, no left ear and slight left facial paralysis. For treatment was planned a multidisciplinary approach with an ortho-surgical fase. The attention of syndromic patient requires the analysis of each syndrome's characteristics so the clinician can establish his goals and limitations. The approach of anomalies associated to a syndrome must have a logical sequence and well analyzed so the patient can receive an efficient and effective treatment.