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BMC Ophthalmology Aug 2018Goldenhar syndrome has variable presentations and can affect multiple regions of the body. Diagnoses are based on clinical manifestations. The association of Goldenhar...
BACKGROUND
Goldenhar syndrome has variable presentations and can affect multiple regions of the body. Diagnoses are based on clinical manifestations. The association of Goldenhar syndrome with blepharophimosis and limb deformities has not previously been reported. Here, we describe a patient who was diagnosed with Goldenhar syndrome in association with blepharophimosis, ocular hypertelorism, hearing loss and limb deformities.
CASE PRESENTATION
A 10-year-old male was first referred to our ophthalmology clinic on 2009-2-11 for ocular hypertelorism and microphthalmia when he had chin-up position. In the first ophthalmic examination, his palpebral fissure length was 19 mm on the right and 20 mm on the left, both palpebral fissure height was 4 mm, the inner intercanthal distance was 63 mm, both upper margin reflex distances were - 1 mm, the myodynamia of the levator palpebrae muscle was 2 mm on the right and 3 mm on the left, and his visual acuity was 20/40 on the right and 20/32 on the left. A physical examination revealed the patient had developed limb deformities in his hands, wrists, elbows and shoulders along with hearing loss. The patient was diagnosed with Goldenhar syndrome because his clinical presentations included ocular hypertelorism, hearing loss, and multiple acral joint deformities. He underwent a first operation in 2009 and a second in 2015. The second operation achieved a satisfactory result in which the horizontal fissure length was 28 mm on both sides, both palpebral fissure height was 10 mm, the inner intercanthal distance was 30 mm, and both of the upper margin reflex distances were 4 mm. He continued to wear hearing aids as usual. His hearing loss and joint deformities were slated for long-term follow-up at his parents' request.
CONCLUSION
The patient, diagnosed with Goldenhar syndrome in association with blepharophimosis, ocular hypertelorism, hearing loss and limb deformities, underwent two operations and achieved a satisfactory result. The patient was submitted to long-term follow-up observations and symptomatic treatments that vary with age and systemic associations, as needed. When treating patients with Goldenhar syndrome, ophthalmology specialists should cooperate with a multi-disciplinary team of clinicians and reach agreement regarding the appropriate systemic and comprehensive treatments.
Topics: Abnormalities, Multiple; Blepharophimosis; Child; Eyelids; Goldenhar Syndrome; Humans; Limb Deformities, Congenital; Male; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Tomography, X-Ray Computed; Visual Acuity
PubMed: 30134872
DOI: 10.1186/s12886-018-0872-5 -
Journal of Clinical Medicine Apr 2024Neurocristopathies (NCPs) encompass a spectrum of disorders arising from issues during the formation and migration of neural crest cells (NCCs). NCCs undergo... (Review)
Review
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.
PubMed: 38673496
DOI: 10.3390/jcm13082223 -
BMC Ophthalmology Feb 2024To report a case of a 4-year-old patient with Goldenhar syndrome. (Review)
Review
BACKGROUND
To report a case of a 4-year-old patient with Goldenhar syndrome.
CASE PRESENTATION
The 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.
CONCLUSIONS
Goldenhar 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.
Topics: Male; Humans; Child, Preschool; Goldenhar Syndrome; Congenital Microtia; Abnormalities, Multiple; Tomography, X-Ray Computed; Eye Neoplasms
PubMed: 38388885
DOI: 10.1186/s12886-024-03317-9 -
Italian Journal of Pediatrics Feb 2012The Pierre Robin Sequence features were first described by Robin in 1923 and include micrognathia, glossoptosis and respiratory distress with an incidence estimated as... (Review)
Review
BACKGROUND
The Pierre Robin Sequence features were first described by Robin in 1923 and include micrognathia, glossoptosis and respiratory distress with an incidence estimated as 1:8,500 to 1:20,000 newborns. Upper airway obstruction and feeding difficulties are the main concerns related to the pathology. Mandibular distraction should be considered a treatment option (when other treatments result inadequate). PATIANTS AND METHODS: Ten patients between the ages of 1 month and 2 years with severe micrognathia and airway obstruction were treated with Mandibular Distraction Osteogenesis (MDO).All patients underwent fibroscopic examination of the upper airway and a radiographic imaging and/or computed tomography scans to detect malformations and to confirm that the obstruction was caused by posterior tongue displacement. All patients were evaluated by a multidisciplinary team. Indications for surgery included frequent apneic episodes with severe desaturation (70%). Gavage therapy was employed in all patients since oral feeding was not possible. The two tracheotomy patients were 5 months and 2 years old respectively, and the distraction procedure was performed to remove the tracheotomy tube. All patients were treated with bilateral mandibular distraction: two cases with an external multivector distraction device, six cases with an internal non-resorbable device and two cases with an internal resorbable device. In one case, the patient with Goldenhar's Syndrome, the procedure was repeated.
RESULTS
The resolution of symptoms was obtained in all patients, and, when present, tracheotomy was removed without complications. Of the two patients with pre-existing tracheotomies, in the younger patient (5 months old) the tracheotomy was removed 7 days postoperatively. In the Goldenhar's syndrome case (2 years old) a Montgomery device was necessary for 6 months due to the presence of tracheotomy-inducted tracheomalacia. Patients were discharged when the endpoint was obtained: symptoms and signs of airway obstruction were resolved, PAS and maxillomandibular relationship improved, and tracheotomy, when present, removed. During the follow-up, no injury to the inferior alveolar nerve was noted and scarring was significant in only the two cases treated with external devices.
CONCLUSION
Mandibular Distraction Osteogenesis is a good solution in solving respiratory distress when other procedures are failed in paediatric patients with severe micrognatia.
Topics: Airway Obstruction; Child, Preschool; Female; Goldenhar Syndrome; Humans; Infant; Infant, Newborn; Male; Mandible; Micrognathism; Osteogenesis, Distraction; Pierre Robin Syndrome; Respiratory Distress Syndrome, Newborn; Treatment Outcome
PubMed: 22300418
DOI: 10.1186/1824-7288-38-7 -
Indian Journal of Ophthalmology Nov 2020The ocular features of Goldenhar syndrome (GS) are typically external, like surface dermoids and lid coloboma. Retinal detachment (RD) is rare and has not been reported...
The ocular features of Goldenhar syndrome (GS) are typically external, like surface dermoids and lid coloboma. Retinal detachment (RD) is rare and has not been reported in absence of other concomitant predisposing congenital ocular disorders. We present a unique case of bilateral rhegmatogenous retinal detachment (RRD) with GS. To the best of our knowledge, this association of GS with RRD is novel and has not been reported earlier in ophthalmic and systemic literature on RRD.
Topics: Coloboma; Goldenhar Syndrome; Humans; Retinal Detachment; Retrospective Studies; Visual Acuity
PubMed: 33120701
DOI: 10.4103/ijo.IJO_401_20 -
American Journal of Ophthalmology Case... Mar 2023To report a case of lacrimal system agenesis in a patient with Goldenhar syndrome.
PURPOSE
To report a case of lacrimal system agenesis in a patient with Goldenhar syndrome.
OBSERVATIONS
A one-month-old female preterm twin with Goldenhar syndrome presented with left upper eyelid coloboma, left central corneal ulcer and inferotemporal epibulbar dermoid. The corneal ulcer was treated and healed to a mild stromal scar. Examination under anesthesia prior to surgery revealed agenesis of the upper and lower eyelids canaliculi. Surgery was performed to correct left upper eyelid coloboma. At a second stage, the epibulbar dermoid was excised and ocular surface was repaired with amniotic membrane graft.
CONCLUSION AND IMPORTANCE
Goldenhar syndrome is a rare congenital anomaly arising from the abnormal development of the first and second branchial arches. Anomalies of lacrimal drainage system are uncommon in Goldenhar including nasolacrimal duct obstruction and common canalicular obstruction. Agenesis of the lacrimal system has not been described in cases of Goldenhar syndrome. This case represents a unique and uncommonly seen feature.
PubMed: 36544754
DOI: 10.1016/j.ajoc.2022.101766 -
Case Reports in Pediatrics 2015Goldenhar Syndrome is characterized by craniofacial, ocular and vertebral defects secondary to abnormal development of the 1st and 2nd branchial arches and vertebrae....
Goldenhar Syndrome is characterized by craniofacial, ocular and vertebral defects secondary to abnormal development of the 1st and 2nd branchial arches and vertebrae. Other findings include cardiac and vascular abnormalities. Though these associations are known, the specific anomalies are not well defined. We present a 7-month-old infant with intermittent respiratory distress that did not improve with respiratory interventions. Echocardiogram suggested a double aortic arch. Cardiac CT angiogram confirmed a right arch and aberrant, stenotic left subclavian artery, dilation of the main pulmonary artery, and agenesis of the left thyroid lobe. Repeat echocardiograms were concerning for severely dilated coronary arteries. Given dilation, a rheumatologic workup ensued, only identifying few weakly positive autoantibodies. Further imaging demonstrated narrowing of the aorta below the renal arteries and extending into the common iliac arteries and proximal femoral arteries. Given a physical exam devoid of rheumatologic findings, only weakly positive autoantibodies, normal inflammatory markers, and presence of the coronary artery dilation, the peripheral artery narrowings were not thought to be vasculitic. This case illustrates the need to identify definitive anomalies related to Goldenhar Syndrome. Although this infant's presentation is rare, recognition of specific vascular findings will help differentiate Goldenhar Syndrome from other disease processes.
PubMed: 26688769
DOI: 10.1155/2015/954628 -
Journal of Pediatric Genetics Jun 2012The oculoauriculovertebral spectrum (OAVS) is a well-described pattern of congenital malformations primarily characterized by hemifacial microsomia and/or auricular... (Review)
Review
The oculoauriculovertebral spectrum (OAVS) is a well-described pattern of congenital malformations primarily characterized by hemifacial microsomia and/or auricular dysplasia. However, the birth prevalence of OAVS is poorly characterized. Figures ranging from 1 in 150,000 through to 1 in 5,600 can be found in the literature - the latter figure being the most frequently quoted. This study aims to evaluate the reasons behind such discrepant figures and to refine the estimated birth prevalence of OAVS. Published reports on the incidence and prevalence of OAVS were systematically sought after. This evidence was critically reviewed. Data from appropriate studies was amalgamated to refine the estimate of the birth prevalence for OAVS. Two main reasons were identified why birth prevalence figures for OAVS are so highly discrepant: differing methods of case ascertainment and the lack of a formal definition for OAVS. This study refines the estimate of birth prevalence for OAVS to between 1 in 40,000 and 1 in 30,000. This number needs to be confirmed in a large well-designed prospective study using a formally agreed-upon definition for OAVS.
PubMed: 27625806
DOI: 10.3233/PGE-2012-014 -
BMC Anesthesiology Jun 2023Goldenhar syndrome is a congenital disease that involves an absence or underdevelopment of structures that arise from the first and second pharyngeal arches and more or...
BACKGROUND
Goldenhar syndrome is a congenital disease that involves an absence or underdevelopment of structures that arise from the first and second pharyngeal arches and more or less severe extracranial anomalies. A variety of supraglottic malformations may be observed, including mandibular hypoplasia, mandibular asymmetry and micrognathia. Subglottic airway stenosis (SGS), which can cause difficulties in airway management during the perioperative period, is seldom emphasized in literature descriptions of Goldenhar syndrome, but can be clinically significant.
CASE PRESENTATION
An 18-year-old female with a history of Goldenhar syndrome presented for placement of a right mandibular distractor, right retroauricular dilator, and stage I transfer of a prefabricated expanded flap under general anesthesia. During tracheal intubation, the endotracheal tube (ETT) met resistance unexpectantly when attempting to pass through the glottis. Subsequently, we attempted the procedure with a smaller size ETT but again met resistance. With fiberoptic bronchoscope, we found that the whole segment of the trachea and bilateral bronchi were obvious narrow. Given the finding of unexpected severe airway stenosis and the associated risks with proceeding with the surgery, the operation was cancelled. We removed the ETT once the patient was fully awake.
CONCLUSIONS
Anesthesiologists should be aware of this clinical finding when evaluating the airway of a patient with Goldenhar syndrome. Coronal and sagittal measurements on computerized tomography (CT) and three-dimensional image reconstruction can be used to evaluate the degree of subglottic airway stenosis and measure the diameter of the trachea.
Topics: Female; Humans; Adolescent; Goldenhar Syndrome; Constriction, Pathologic; Intubation, Intratracheal; Trachea; Glottis
PubMed: 37328815
DOI: 10.1186/s12871-023-02179-w