Goldenhar Research Articles

Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap.

Neurocristopathies (NCPs) encompass a spectrum of disorders arising from issues during the formation and migration of neural crest cells (NCCs). NCCs undergo epithelial-mesenchymal transition (EMT) and upon key developmental gene deregulation, fetuses and neonates are prone to exhibit diverse manifestations depending on the affected area. These conditions are generally rare and often have a genetic basis, with many following Mendelian inheritance patterns, thus making them perfect candidates for precision medicine. Examples include cranial NCPs, like Goldenhar syndrome and Axenfeld-Rieger syndrome; cardiac-vagal NCPs, such as DiGeorge syndrome; truncal NCPs, like congenital central hypoventilation syndrome and Waardenburg syndrome; and enteric NCPs, such as Hirschsprung disease. Additionally, NCCs' migratory and differentiating nature makes their derivatives prone to tumors, with various cancer types categorized based on their NCC origin. Representative examples include schwannomas and pheochromocytomas. This review summarizes current knowledge of diseases arising from defects in NCCs' specification and highlights the potential of precision medicine to remedy a clinical phenotype by targeting the genotype, particularly important given that those affected are primarily infants and young children.

Goldenhar Syndrome: Quality-of-Life Analysis of 43 Consecutive Patients.

Goldenhar syndrome is a rare congenital disease, characterized by the malformation of craniofacial features, spine, and other organs. Its pathogenesis and impact on patients' quality of life (QoL) have not been fully elucidated as yet. Therefore, data of all patients with Goldenhar syndrome, who were treated at Hannover Medical School between 1997 and 2020, were analyzed. Forty-three patients were identified. Their medical records were carefully reviewed for data regarding their age, sex, demographics, Pruzansky classification, surgical history, and affected side. Goldenhar syndrome-associated medical conditions, therapeutic procedures, and the impact of disease on QoL were assessed. Their QoL was assessed using the Oral Health Impact Profile (OHIP)-14 questionnaire. The χ 2 test and Pearson correlation were performed for statistical evaluation. Female sex was positively correlated with OHIP outcomes, whereas male sex had a negative correlation with OHIP outcomes. Therefore, females had significantly worse QoL than males. No significant correlation was observed between the Pruzansky classification and QoL or between surgical history and QoL. Goldenhar syndrome is a rare disease that presents with varying severity. Hence, prospective studies are required to further investigate the impact of Goldenhar syndrome on the QoL.

Goldenhar syndrome with limbal neoformation, microtia and skeletal deformities: a case report and literature review

BackgroundTo report a case of a 4-year-old patient with Goldenhar syndrome.Case presentationThe author presents a rare case report involving a 4-year-old boy with multiple malformations. A comprehensive examination showed that the patient primarily had a limbal dermoid. He also has bilateral microtia and ear canal deformities. The skull CT scan and spine X-ray showed Maxillofacial Abnormalities and scoliosis. Whole Exome Sequencing revealed potential gene variations related to microtia. Although certain circumstances prevented us from initiating follow-up treatment for the patient, we have provided a detailed account of the diagnostic methodologies used for this condition.ConclusionsGoldenhar syndrome is a congenital condition, predominantly presenting as sporadic cases. Its diagnosis and management typically necessitate the involvement of multiple disciplines, including otolaryngology and craniofacial surgery. The syndrome encompasses a variety of craniofacial features, which can facilitate early diagnosis and guide subsequent therapeutic interventions.

Pseudopterygium After Limbal Dermoid Cyst Excision in a Child with Goldenhar Syndrome

Introduction : Goldenhar syndrome is a rare congenital disorder also known as oculoauricularvertebral dysplasia. Limbal dermoid associated with this syndrome. This case report aims to present an reccurent pseudopterygium after three times limbal dermoid cyst excision in patient with Goldenhar syndrome.
 Case Illustration : Patient 13 years old male with pseudopterygium in right eye. Visual acuity both eyes 6/6 snellen chart. Fibrovascular tissue from tarsal conjunctival inferotemporal to 2 mm limbal cornea in right eye. Patient had limbal dermoid cyst in right eye since birth and underwent limbal dermoid cyst excision for three times. First time surgery used amniotic membrane transplantation, then second and third surgery used conjunctival limbal graft. Goldenhar syndrome have been diagnosed since the age of 2 years old. External examination noticed asymmetrical hemifacial microsmia, grade III microtia right ear, conduction deafness, and laryngomalacia.
 Discussion : Limbal dermoid cyst is one of characteristic of Goldenhar syndrome. In this case pseudopterygium grade II in right eye developed after limbal dermoid cyst excision for three times. Limbal dermoid simple excision may lead to corneal vascularization persistent epithelial defect, scar, and pseudopterygium. Various surgical include superficial keratectomy, amniotic membrane transplantation and lamellar or penetrating keratoplasty. Pseudopterygium still occurs in this case, even though recurrence has been prevented by administration of amniotic membrane transplantation and conjunctival limbal graft.
 Conclusion : We should be concerned about management of limbal dermoid cyst with Goldenhar syndrome to prevent recurrent pseudopterygium.

Management of Lateral Canthal Coloboma in Goldenhar Syndrome: A Rare Case Report

Introduction : Goldenhar syndrome is a rare congenital disorder characterized by a wide range of physical anomalies affecting the face, ears, eyes, and spine.
 Case Illustration : Patient, female 19-year-old, complained of growing mass and blurry vision on right eye since childhood. The patient also has an asymetric face with the right side being smaller then left. She also has hearing disorder on her right ear. Ophthalmology examination revealed right eye's visual acuity is 6/120, lateral canthus coloboma , trichiasis and mass on the inferior palpebral, and conjunctiva attached to the cornea. Left eye is within normal limit. The right ear appears deformed, with no ear canal and preauricular skin tags. Patient underwent conjungtiva tumor excision and given labia mucosa graft with canthoplasty. Histology examination revealed benign lipomatous tumor. Patient feels more confident after oculoplasty surgery.
 Discussion : Goldenhar syndrome is a rare condition caused by abnormal development of the first and second branchial arches. It is characterized by a wide range of ocular features, including eyelid and iris coloboma, conjungtiva dermoid or dermolipoma, and more. Beside ocular features, other features are ear malformations, facial asymmetry, cleft lip or palate, and vertebral anomalies. It was unique case because an unformed canthus was found due to a large of conjunctival fornix mass. Appropriate management is necessary for a fulfilling life, though the disorder can have significant psychosocial effects.
 Conclusion : Goldenhar syndrome is a rare disease with numerous symptoms and its management is crucial for individuals to have a fulfilling life despite its potentially significant psychosocial impacts.

Epibulbar Choristoma, Dermolipoma

Introduction : Choriostoma is a tissue anomalie distinguished by distinct cell types that are not typically present at the affected region. Dermolipoma is one type of choriostoma.
 Case Illustration : A twenty three year old woman is presented with epibulbar mass in the left eye since birth. She wished to remove the mass for cosmetic purposes. She denied any underlying medical condition and ocular history. Her visual acuity was 6/6 in both eyes and intraocular pressure was normal. Slit lamp examination revealed a yellowish white lesion of the external canthus of the left eye, no redness, and no discharge. The mass was 5 x 10 mm. Fundus examination was unremarkable. Patient underwent mass excision with cosmetic indication and has a satisfactory result.
 Discussion : A dermolipoma is an epibulbar choriostoma made of thick connective tissue and adipose tissue. The benign tumor is rare and makes up 4.2% of all conjunctival lesions. Dermolipoma can be very large, involving the extraocular muscle, lacriminal gland, and orbital tissue. Dermolipoma may be connected to epidermal nevus syndromes, Goldenhar syndrome, or coloboma. The majority of the time, these tumors don't need to be treated unless they are larger or have an unfavorable appearance.
 Conclusion : Dermolipoma is not cosmetically acceptable may be treated with excision of the mass.

Breaking the silence: A qualitative exploration of parental perspectives of children with Goldenhar Syndrome

BackgroundGoldenhar Syndrome is a rare congenital condition, typically characterized by craniofacial abnormalities and vertebral malformations. Due to its rare and complex nature, the etiology is unconfirmed, resulting in parental uncertainty and subsequent emotional sequelae. Clinical manifestations have been researched but few studies have explored parental wellbeing and Quality of Life (QoL). In this qualitative study, we explore parental views of the challenges and lived experience of raising a child with Goldenhar Syndrome. MethodsTen biological parents (five mothers and five fathers), recruited at the Goldenhar UK Conference, took part in audio-recorded, semi-structured interviews. Interviews explored emotional wellbeing, views surrounding causation, support accessed, challenges faced, experience of stigma and future outlooks. Reflexive thematic analysis was employed, and transcripts were subject to deductive and inductive coding. ResultsSeven themes were identified: support networks (Goldenhar UK), rollercoaster of emotion; gendered coping; uncertainty; societal reactions; coping with challenge and acceptance. ConclusionsThis is the first-time the life perspectives of parents, raising a child with Goldenhar Syndrome, have been explored via interviews. We have unearthed prominent issues that impact parental QoL including isolation and distress at the point of diagnosis, and throughout the multidisciplinary health journey. We have also established significant indicators of the ongoing QoL challenges faced by young people with Goldenhar Syndrome. Future work is underway exploring these issues further with teenagers, young people and adults with Goldenhar to develop a conceptual framework of their QoL. This will be used to develop a bespoke patient reported outcome (PRO) to give voice to the challenges children and young adults face during their medical journey.

Goldenhar syndrome: An ephialte for the anesthesiologist – What we saw was just the tip of the iceberg

Goldenhar syndrome, also called oculoauriculovertebral dysplasia, is characterized by craniofacial, central nervous system, cardiac, renal, and vertebral anomalies. It occurs due to the faulty unilateral development of vertebral arches. Patients presenting for surgery are usually in the pediatric age group. General anesthesia is the preferred mode of anesthesia considering the type of surgery, age of the patient, and vertebral anomaly in this patient group. The first and foremost consideration while anesthetizing these patients is the anticipated difficult airway. Frequently encountered airway abnormalities in these patients are micrognathia, retrognathia, mandibular dysplasia, craniovertebral anomalies leading to limited neck flexion and cervical spine instability, decreased thyromental distance, fascial asymmetry, cleft lip and palate, high arched palate, dental abnormalities, and temporomandibular joint abnormalities. Difficult airways often come disguised as syndromes, and thorough pre-operative evaluation along with preparation for the worst scenarios is a must. We have a myriad of alternative airway management equipment at our disposal. Adequate knowledge is a must for their best use.

Goldenhar syndrome, case report

Goldenhar syndrome, case report

Anaesthetic Implications in a Child with Goldenhar Syndrome Undergoing Eye Surgery

Anaesthetic Implications in a Child with Goldenhar Syndrome Undergoing Eye Surgery

Surgical preparation of patients with Goldenhar syndrome for compression-distraction osteosynthesis

Surgical preparation of patients with Goldenhar syndrome for compression-distraction osteosynthesis

A case of Abernethy malformation type I combined with hepatoblastoma.

This article encountered an extremely rare case of a 2-year-old male with Abernethy malformation Type I combined with hepatoblastoma. Furthermore, the medical history was characterized by several other abnormalities: gross facial asymmetry and cardiac defects，thus, diagnosis of Goldenhar syndrome in the setting of Abernethy type I was made. In this article, we exhibit the typical clinical presentation and Pathology imaging features of this disease.

Dental management of Goldenhar syndrome in a pediatric patient

Abstract: The purpose of the case report was to highlight the various features of Goldenhar syndrome to aid in the diagnosis of this syndrome which has classic clinical features such as microtia, preauricular skin tags, micrognathia, facial asymmetry, midface deficiency, malocclusion of teeth with poor oral hygiene, and carious teeth. A 12-year-old female child reported to the department with a chief complaint of pain in the lower left back tooth region. There was no significant prenatal, postnatal, and medical history. Herein, we report a case of Goldenhar syndrome with hemifacial micrognathia and microtia along with intraoral involvement which was clinically and radiographically assessed and described full-mouth rehabilitation procedures.

Prevotella Denticola Dacryocystitis and Abscess in a Child with Goldenhar Syndrome

Dacryocystitis is the inflammation of the nasolacrimal sac and is due to obstruction of the nasolacrimal system or lacrimal stagnation, leading to favorable environments for infection. Any disruptions to the nasolacrimal pathway can increase the risk of dacryocystitis. Here is a unique case of Prevotella denticola dacryocystitis that progressed into cellulitis and abscess formation in a 7-year-old female with a medical history of Goldenhar syndrome, recurrent dacryocystitis, and periodontal disease. The patient presented with standard dacryocystitis symptoms—tenderness to palpation, erythema, and edema to the medial canthus. The patient was treated empirically with vancomycin, ceftriaxone, and clindamycin. She was discharged home on clindamycin with symptomatic improvement and plans for dacryocystorhinostomy. Goldenhar syndrome is a rare congenital craniofacial malformation disorder due to aberrant morphogenesis in structures derived from the first and second branchial arches. P. denticola is an anaerobic gram-negative bacillus significant to the oral microbiome. There is currently limited research suggesting the relationship between Goldenhar syndrome and dacryocystitis complicated by Prevotella denticola. Based on the patient’s medical history, we predict that her complex presentation was secondary to the dissemination of Prevotella from her oral cavity. This case report emphasizes the importance of gram-negative anaerobic coverage in complicated dacryocystitis in patients with nasolacrimal defects.

SAT529 An Uncommon Case Report Of A Paraaortic Paraganglioma

Abstract Disclosure: E. Askar: None. J.R. Fredrick: None. S. Anantha: None. K.G. Reddy: None. Background: Extraadrenal pheochromocytomas, also known as paragangliomas are uncommon neuroendocrine tumors that develop from sympathetic ganglia chromaffin cells. These tumors rarely cause hypertension, in less than 0.2% of patients. Although pheochromocytomas are known to be secreting catecholamines, paragangliomas are less likely to be functional. Here we report a rare case of Catecholamine secreting Paraganglioma presenting with hypertension. Clinical Case: A 28 -year-old female with past medical history of Goldenhar syndrome presented to our outpatient institution complaining of headache, palpitations and high blood pressure measurements at home with systolic blood pressure ranging between 160-200 mm Hg for a few months prior to presentation. Her only medication was propranolol for hypertension. At presentation, blood pressure was 126/72 mm Hg, heart rate was 76 beats per minute. Physical examination revealed no significant findings. Abdominal exam did not reveal any palpable masses. The patient denied any history of substance, tobacco, or alcohol abuse. No family history was found for any similar masses or hypertension. Laboratory findings were significant for elevated normetanephrines at 785 pg/mL (18 to 111) with normal metanephrines level. CT abdomen was significant for 2.5 cm enhancing left paraaortic mass separate from kidneys and adrenal glands. The patient was started on doxazosin and propranolol was switched to atenolol. After her blood pressure was adequately controlled with the alpha and beta blockade, she was referred to a tertiary facility for excision of the mass. Robotic excision of the mass was performed successfully without any significant blood pressure variations noted intraoperatively. The diagnosis of a well differentiated extraadrenal pheochromocytoma was confirmed by pathology, and the patient was referred for outpatient genetic testing and endocrinology follow up. Conclusion: This is an extremely rare case of paraganglioma given its presentation and location of the mass. The previously reported paragangliomas usually present as ER visits with severe sympathetic symptoms but it is uncommon to present as an outpatient for secondary hypertension workup. In the literature, we have found case reports of catecholamine secreting paragangliomas which guided the management of this uncommon case as mentioned above. Clinicians must be aware of this rare presentation of paraganglioma in order to properly diagnose and manage the condition.

Risk factors for Microtia and preventive approaches

Microtia is a congenital anomaly that directly affects the external ear. Although the etiology of this pathology is not fully elucidated, there are several factors that are associated with its occurrence, such as genetics, perinatal and maternal conditions. During organogenesis of the outer ear it is important to mention that as anomalies occur before the sixth week of pregnancy, the chances of severe defects or total absence of the outer ear increase. At the genetic level, the etiology of microtia has been related to multiple causes, as well as the identification of genes involved in allelic expression pathways and transcription factors. Furthermore, this anomaly does not always occur alone, but associated with other pathologies such as cleft palate (12.8%), cleft lip and palate (11.5%), anophthalmia/microphthalmia (11.5%), facial asymmetry (10.6%), as well as oculoauriculovertebral spectrum syndromes, Goldenhar syndrome, craniofacial microsomia, Treacher Collins syndrome, Nager, DiGeorge or 22q deletion, Townes-Brock syndrome and branchi oto-renal syndrome. Treatments are based on the aesthetic management of the patient, but also related to the improvement of the patient's hearing ability. Epidemiologically, the prevalence ranges from 0.8 to 17.5 per 10,000 live births. One of the main risk factors for variation in case identification is altitude, genetics and maternal-perinatal factors. This literature review provides a thorough analysis of information for the better understanding, analysis and clinical management of this congenital anomaly.

Bipolar and Goldenhar: A Case Report of Bipolar Disorder with Psychotic Features in a Man with Goldenhar Syndrome

Background: Goldenhar syndrome is a congenital condition primarily affecting eye, ear, and spine development. In some cases, it can also impact the heart, lungs, kidneys, and central nervous system. The exact cause of Goldenhar syndrome is not fully understood, and its incidence is estimated to range from 1 in 3500 to 1 in 5600 live births. While intellectual disability is associated with the condition, no established link exists between Goldenhar syndrome and psychiatric disorders. Case presentation: In the presented case, a patient with Goldenhar syndrome has been diagnosed with an episode of mania with psychotic features in the context of bipolar disorder. The patient had no history of prior mental disorders and had an independent life. Discussion: There are few case reports of Goldenhar syndrome patients with mental disorders. In all instances, including our own case, patients exhibited psychotic features during psychiatric examinations. Conclusion: Based on the studies cited and our own research, it is recommended to further investigate the potential association between this syndrome and psychiatric disorders. The following sections provide details on the examination, medical history, and treatment of this patient.

Cryptophthalmos: associated syndromes and genetic disorders

ABSTRACT Purpose Cryptophthalmos is a rare congenital condition caused by anomalous eyelid development where the eyelid folds do not develop or fail to separate. Cryptophthalmos can be unilateral or bilateral and can occur in isolation or as part of an underlying syndrome. We aim to identify genetic syndromes associated with cryptophthalmos to facilitate genetic diagnosis. Methods We performed a retrospective medical record review of all patients diagnosed with cryptophthalmos followed at a single center between 2000 and 2020. The analysis included medical history, clinical examination findings, and genetic testing results. Results Thirteen patients were included, 10 (77%) males, mean age of 2.4 years. Eight (61%) had bilateral cryptophthalmos, and 4 (31%) had complete cryptophthalmos. Associated ocular abnormalities included corneal opacities (13/13, 100%), upper eyelid colobomas (12/13, 92%), and microphthalmia/clinical anophthalmia (3/13, 23%). All cases of complete cryptophthalmos had bilateral disease. An underlying clinical or molecular diagnosis was identified in 10/13 (77%) cases, including Fraser syndrome (n = 5), amniotic band syndrome (n = 1), FREM1-related disease (n = 1), Goldenhar versus Schimmelpenning syndrome (n = 1), MOTA syndrome (n = 1), and CELSR2-related disease (n = 1). Conclusion This is the first report of a possible association between cryptophthalmos and biallelic CELSR2 variants. Children with cryptophthalmos, especially those with extra-ocular involvement, should be referred for comprehensive genetic evaluation.

Distribution and Phenotype of Goldenhar Syndrome and Its Association With Other Anomalies.

The purpose of this study was to investigate the distribution and phenotype of Goldenhar syndrome (GS) and its association with other anomalies. The samples consisted of 18 GS patients (6 males and 12 females; mean age at investigation, 7.4 ± 4.8y) who were treated or followed up at the Department of Orthodontics, Seoul National University Dental Hospital between 1999 and 2021. The prevalence of side involvement and degree of mandibular deformity (MD), midface anomalies, and association with other anomalies were evaluated using statistical analysis. The prevalence of unilateral and bilateral MD did not differ (55.6% versus 44.4%). In unilateral MD cases, there was a tendency for higher prevalence of more severe Pruzansky-Kaban types than mild ones (type I, 10%; type IIa, 10%; type IIb, 50%; type III, 30%). Despite hypoplasia of the condyle/ramus complex, compensatory mandibular body growth occurred in 33.3% of GS patients (more severe side in bilateral MD cases, 37.5%, and ipsilateral side in unilateral MD cases, 30%). Class II molar relation was more prevalent than class I and class III molar relations (72.2% versus 11.1% versus 16.7%, P <0.01). Al total of 38.9% of patients had congenitally missing tooth. #7 facial cleft was found in 44.4% of patients. In midface anomalies, ear problem was the most common anomaly, followed by hypoplasia/absence of zygomatic arch and eye problem (88.9% versus 64.3% versus 61.1%, P <0.01). Association with the midface, spine, cardiovascular, and limb anomalies did not differ between unilateral and bilateral MD cases. These results might provide a basic guideline for diagnosis and treatment planning for GS patients.

Case report – A rare syndromic association (Goldenhar syndrome)

ABSTRACT Goldenhar syndrome is a diverse and poorly understood continuum of disorders of unknown etiology. It is a complex of developmental disorders (face, ears, eyes, spine, etc.), varying in severity in each patient. The estimated incidence of the syndrome ranges from 1 in 3500 to 5600 live births. The male-to-female ratio is approximately 3:2. Most cases of Goldenhar syndrome occur sporadically, although several case reports have documented occurrences in successive generations that require consideration of autosomal recessive, dominant, or multifactorial inheritance. Since there are other syndromes with similar features, there is still confusion regarding which cases should be classified specifically as Goldenhar syndrome. Goldenhar syndrome is a malformation complex of varying severity, involving the structures arising from the first and second branchial arches, the first pharyngeal pouch, the first branchial cleft and the primordia of the temporal bone. We are presenting a rare case of 2 ½ months old male, with asymmetry of the frontonasal area, left auricle anotia, preauricular tags, epicanthus, and left facial nerve palsy. The child had thoracic hemivertebra and fused right ectopic kidney on left side with grade IV VUR. The child had H type trachea esophageal fistula which was confirmed on CT thorax which was a cause of recurrent chest infections in child.