Managing Limbal Dermoids in Patients with Goldenhar Syndrome: A Case Series.

Objective: To investigate the clinical characteristics, associated systemic features, and management outcomes of patients with limbal dermoids diagnosed with Goldenhar syndrome. Methods: This case series included patients from the eye outpatient department, diagnosed with Goldenhar syndrome based on systemic evaluation. Demographic data, ophthalmological assessments, and systemic evaluations were recorded. Various surgical interventions were employed based on the extent of limbal dermoids, and postoperative follow-up spanned one year. Results: Seven patients (nine eyes) were included, with a mean age of 7.71±4.15 years. Limbal dermoids were bilateral in two patients and unilateral in five. Grade 1 and grade 2 limbal dermoids were observed. The mean BCVA was 0.50±0.11 (logMAR), and astigmatism was present in six patients. Systemic features of Goldenhar syndrome included vertebral anomalies, ear abnormalities, facial anomalies, and lower limb deformity. Surgical interventions varied, with simple excision, lamellar keratoplasty, and amniotic membrane transplantation utilized. Postoperatively, corneal scar formation occurred in all simple excision cases. Conclusion: This case series underscores the rarity of limbal dermoids in the context of Goldenhar syndrome and the importance of early surgical intervention in managing these cases. By sharing our experiences and outcomes, we hope to contribute to the broader understanding of this condition and its optimal treatment.

Goldenhar syndrome.

Goldenhar syndrome, also recognised as oculo-auriculo-vertebral spectrum, is a very rare condition distinguished by a diverse array of clinical abnormalities affecting the ocular, auditory, vertebral and various organ systems. The pathophysiology of this condition is not fully elucidated due to its inherent genetic variability and rarity. In this report, we present a case of Goldenhar syndrome in a toddler boy, aiming to enhance the existing body of literature on this condition.

Dental anomalies in craniofacial microsomia and condylo-mandibular dysplasia: A retrospective study of 103 patients.

INTRODUCTION: Craniofacial microsomia (CFM) and camel-hump condylo-mandibular dysplasia (CMD) are developmental disorders affecting the mandible that share common clinical features. This study aimed to investigate and compare the dental anomalies (DA) between the two entities for differential diagnosis and to propose appropriate treatment. METHODS: This retrospective cross-sectional study was based on panoramic radiographs of patients diagnosed with CFM or CMD. DA were evaluated using the classification reported by Bilge. Delayed tooth eruption on the affected side was noted based on a comparison with the contralateral side. Nolla's stages of tooth calcification were used to assess dental development. RESULTS: A total of 103 patients were included, 80 subjects (77.7 %) in CFM group and 23 patients (22.3 %) in CMD group. The prevalence of DA among CFM and CMD-affected patients were 80.0 % and 95.7 %, respectively. Tooth ectopia, tooth impaction, dental development delay, and delayed tooth eruption on the affected side exhibited a significant association with the two craniofacial malformations. The overall affected teeth (molars, premolars, canines) differed between the two craniofacial malformations. Dental abnormalities such as oligodontia, hyperdontia, dentin dysplasia, and anomalies of shape were seen only in subjects affected by CFM. CONCLUSION: DA were widely observed in patients with CFM and CMD. The global distribution of affected teeth differed between the two conditions and some DA were detected only in CFM patients. When clinical diagnosis remains uncertain, some specific radiological characteristics of DA can be used to differentiate CFM from CMD.

Identification of a de novo PUF60 variant associated with craniofacial microsomia.

Craniofacial microsomia (CFM), also known as the oculo-auriculo-vertebral spectrum, is a congenital disorder characterized by hypoplasia of the mandible and external ear due to tissue malformations originating from the first and second branchial arches. However, distinguishing it from other syndromes of branchial arch abnormalities is difficult, and causal variants remain unidentified in many cases. In this report, we performed an exome sequencing analysis of a Brazilian family with CFM. The proband was a 12-month-old boy with clinical findings consistent with the diagnostic criteria for CFM, including unilateral mandibular hypoplasia, microtia, and external auditory canal abnormalities. A heterozygous de novo nonsense variant (c.713C>G, p.S238*) in PUF60 was identified, which was predicted to be pathogenic in silico. PUF60 has been reported as a causal gene in Verheij syndrome, but not in CFM. Although the boy showed craniofacial abnormalities and developmental delay that overlapped with Verheij syndrome, the facial asymmetry with unilateral hypoplasia of the mandible observed in this case did not match the previously reported phenotypes of PUF60 variants. Our findings expand the phenotypic range of PUF60 variants that cover CFM and Verheij syndrome.

Loeys-Dietz syndrome and Goldenhar syndrome unveiled together.

Haemifacial microsomia is an asymmetrical congenital tissue malformation developed from the first and second branchial arches with or without multi-system involvement. Alternatively recognised as Goldenhar syndrome or oculoauriculovertebral spectrum (OAVS), it is an aetiologically heterogeneous group of disorders showing dominant trends in inheritable form.We present a case of a boy in early childhood with concomitant craniofacial features of craniofacial microsomia with Loeys-Dietz syndrome. He had a unilateral hypoplastic face, asymmetrical ear malformations and multiple preauricular tags with epibulbar dermoid (features suggestive of Goldenhar syndrome). On detailed clinical evaluation, he met Beighton's criteria and was diagnosed with arterial tortuosity. Further molecular testing confirmed the diagnosis of Loeys-Dietz syndrome type II.Loeys-Dietz syndrome is characterised by aortic root enlargement or type A dissection with or without other vascular malformations and facial midline defects. Molecular testing is required to establish the diagnosis because of overlapping features with other connective tissue disorders.

Prenatal findings in 11 cases with craniofacial microsomia using the Alberta Congenital Anomalies Surveillance System, 1997-2019.

Craniofacial microsomia (CFM) primarily includes specific head and neck anomalies that co-occur more frequently than expected. The anomalies are usually asymmetric and affect craniofacial features; however, there are frequently additional anomalies of variable severity. Published prenatal findings for CFM are limited. This study contributes 11 cases with CFM and their anomalies identified prenatally. Cases born between January 1, 1997 and December 31, 2019 with CFM were abstracted from the Alberta Congenital Anomalies Surveillance System, which is a population-based program ascertaining congenital anomalies for livebirths, stillbirths, and termination of pregnancies for fetal anomalies. There were 11 cases ascertained with prenatal findings including facial anomalies: one each with left cleft lip, right microtia, and bilateral microphthalmia. Two cases had vertebral anomalies. In addition, anomalies of the kidneys, brain, heart, and radial ray were identified. Six (55%) had a single umbilical artery, five (45%) were small for gestational age, and three (27%) were from a twin pregnancy that were discordant for anomalies. Four (36%) overlapped another proposed recurrent constellations of embryonic malformation condition. This study describes prenatal findings for 11 cases with CFM. Comparable to prior published cases, there were recurring anomalies on prenatal imaging, including anomalies of the brain, eye, heart, kidneys, and radial ray, which may aid in the prenatal diagnosis of CFM.

Early Experiences of Parents of Children With Craniofacial Microsomia.

OBJECTIVE: To describe the early health care experiences of parents of children with craniofacial microsomia (CFM), a congenital diagnosis often identified at birth. DESIGN: Qualitative descriptive. SETTING: Homes of participants. PARTICIPANTS: Parents of 28 children with CFM from across the United States. METHODS: We interviewed participants (27 mothers individually and one mother and father together) via telephone or teleconference and used reflexive thematic analysis to derive themes that represented early health care experiences of parents of children with CFM. RESULTS: Participants' narratives included detailed recounting of their birth and early care experiences. We identified two overarching themes. The first overarching theme, Stressors, included four subthemes that represented difficulties related to emotional reactions and negative experiences with health care providers. The second overarching theme, Finding Strength, included four subthemes that represented participants' positive adjustment to stressors through independent information seeking about CFM, adaptive coping, positive experiences with health care providers, and drawing on external supports. CONCLUSION: Participants often described early experiences as challenging. Findings have implications for improving early care, including increasing open and supportive communication by health care professionals, expanding access to CFM information, screening for mental health concerns among parents, strengthening coping among parents, and linking families to resources such as reliable online CFM information and early intervention programs.

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

Characterizing Speech Phenotype in Individuals With Craniofacial Microsomia: A Scoping Review.

INTRODUCTION: Craniofacial microsomia (CFM) is a complex congenital condition primarily affecting the ear, mandible, facial nerve and muscles, and tongue. Individuals with CFM are at increased risk of hearing loss, obstructive sleep apnea, and feeding/swallowing difficulties. The purpose of this scoping review was to summarize evidence pertaining to speech production in CFM. METHOD: All articles reporting any characteristic of speech production in CFM were included and screened by two independent reviewers by title, abstract, and full text. Data charting captured details related to study population and design, CFM diagnostic criteria, speech outcome measurement, and key findings. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews checklist guided reporting of results. Our protocol was registered on the Open Science Framework (https://osf.io/npr94/) and published elsewhere. RESULTS: Forty-five articles were included in the detailed review. Most articles originated from the United States, were published in the past decade, and utilized case report/series study design. A speech-language pathologist authored 29%. The prevalence of velopharyngeal insufficiency ranged from 19% to 55% among studies. Oral distortion of alveolar and palatal fricatives and affricates primarily characterized articulation errors. Studies identified increased disordered speech and lower intelligibility in adolescents with CFM compared to unaffected peers. Evidence pertaining to phonatory and respiratory speech findings is limited. CONCLUSIONS: Evidence supports that individuals with CFM are at increased risk of both velopharyngeal and articulatory speech differences. Additional information is needed to develop speech screening guidelines for children with CFM. Heterogeneity in study design and outcome measurement precludes comparisons across studies. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.24424555.

Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review.

The oculoauriculofrontonasal syndrome (OAFNS) is a rare condition, with unknown etiology, characterized by the association of frontonasal dysplasia (FND) and oculoauriculovertebral spectrum (OAVS). Main clinical findings include widely spaced eyes, epibulbar dermoid, broad nose, mandibular hypoplasia, and preauricular tags. Here, we describe a case series of 32 Brazilian individuals with OAFNS and review the literature ascertaining individuals presenting phenotypes compatible with the diagnosis of OAFNS, aiming to refine the phenotype. This series emphasizes the phenotypic variability of the OAFNS and highlights the occurrence of rare craniofacial clefts as a part of the phenotype. The ectopic nasal bone, a hallmark of OAFNS, was frequent in our series, reinforcing the clinical diagnosis. The absence of recurrence, consanguinity, chromosomal, and genetic abnormalities reinforces the hypothesis of a nontraditional inheritance model. The phenotypic refinement provided by this series contributes to an investigation regarding the etiology of OAFNS.

Evaluation of Research Diagnostic Criteria in Craniofacial Microsomia.

Characteristics of patients with craniofacial microsomia (CFM) vary in type and severity. The diagnosis is based on phenotypical assessment and no consensus on standardized clinical diagnostic criteria is available. The use of diagnostic criteria could improve research and communication among patients and healthcare professionals. Two sets of phenotypic criteria for research were independently developed and based on multidisciplinary consensus: the FACIAL and ICHOM criteria. This study aimed to assess the sensitivity of both criteria with an existing global multicenter database of patients with CFM and study the characteristics of patients that do not meet the criteria. A total of 730 patients with CFM from were included. Characteristics of the patients were extracted, and severity was graded using the O.M.E.N.S. and Pruzansky-Kaban classification. The sensitivity of the FACIAL and ICHOM was respectively 99.6% and 94.4%. The Cohen's kappa of 0.38 indicated a fair agreement between both criteria. Patients that did not fulfill the FACIAL criteria had facial asymmetry without additional features. It can be concluded that the FACIAL and ICHOM criteria are accurate criteria to describe patients with CFM. Both criteria could be useful for future studies on CFM to create comparable and reproducible outcomes.

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.

Craniofacial microsomia - more than a structural malformation.

OBJECTIVES: To analyse the prevalence and distribution of craniofacial microsomia (CFM) cases in Finland and their most frequent comorbidities. The second aim was to analyse the patients' need for specialized healthcare services. MATERIALS AND METHODS: Data were gathered from two complementary registers: The Register of Congenital Malformations and the Care Register for Social Welfare and Health Care (Hilmo) of the Finnish Institute for Health and Welfare (THL). RESULTS: The prevalence of CFM patients in Finland was 1:10 057. They were evenly distributed across the five university hospital districts. Their most frequently used ICD-10 diagnosis codes were F40-48 (Neurotic, stress-related and somatoform disorders), 60% of patients in adolescent and adult psychiatry; Q67.0 (Facial asymmetry), 43% in plastic surgery; Z00.4 (General psychiatric examination, not elsewhere classified), 31% in child psychiatry; Z31.5 (Genetic counselling), 28% in clinical genetics and Q67.40 (Other congenital deformities of the skull, face and jaw, Hemifacial atrophy), 18% in dental, oral and maxillofacial diseases. Of the patients, 70% had had visits in clinical genetics, 60% in plastic surgery, 41% in dental, oral and maxillofacial diseases, 28% in adolescent/adult psychiatry and 21% in child psychiatry. The majority of the patients' plastic surgery visits were concentrated in one university hospital. Other services were mainly provided by patients' own hospital districts. CONCLUSIONS: Even though the majority of CFM patients' visits in specialized healthcare services are related to correction of facial asymmetry and ear malformations, the obvious need for psychiatric care was apparent in all age groups.

Intrauterine diagnosis and follow-up of a child with Goldenhar Syndrome: case report / Diagnóstico intrauterino e seguimento de uma criança com Síndrome de Goldenhar: relato de caso

Abstract Introduction: goldenhar syndrome is a rare congenital syndrome that affects the craniofacial morphogenesis. It is a complex syndrome, with heterogeneous presentation which the diagnosis can still be performed in the intrauterine through morphological ultrasound. Description: a case report of a 4-year-old male patient diagnosed with Goldenhar syndrome, along with its clinical presentation, diagnostic investigation and follow-up. Discussion: the follow-up on these patients remains a challenge, since it can affect different systems and with different presentations. The earlier the diagnosis is performed, the greater the patient's chances of having a favorable prognosis with multidisciplinary stimulation. The objective of this article is to contribute to the medical literature, in order to assist in the diagnosis and management of future cases.

Resumo Introdução: a síndrome de Goldenhar é uma síndrome congênita rara que afeta a morfogênese craniofacial. Trata-se de uma síndrome complexa, de apresentação heterogênea, cujo diagnóstico pode ser realizado ainda intra-útero através do ultrassom morfológico. Descrição: relato de caso de um paciente do sexo masculino de quatro anos, com diagnóstico de síndrome de Goldenhar, sua apresentação clínica, a investigação diagnóstica e seguimento. Discussão: o acompanhamento desses pacientes continua sendo um desafio, já que pode acometer diversos sistemas e com apresentação diversa. O diagnóstico e a estimulação multiprofissional precoce, podem levar a maiores chances de um prognóstico favorável. O objetivo deste trabalho é contribuir para a literatura médica, de forma a auxiliar no diagnóstico e conduta perante futuros casos.

[A case report of the first and second branchial arch syndrome with torticollis].

A 54-month-old female patient presented to the department of ophthalmology with abnormal head posture and facial asymmetry for two years. The patient's facial development was asymmetrical, with the middle 1/3 of the left side shorter than the right side. The left ear is less malformed than the right. There was no obvious abnormality in corneal light reflex and eye movement. Head tilt test ( -). So, paralysis of the superior oblique muscle was excluded. In consultation with the department of maxillofacial surgery, the patient was confirmed as the first and second branchial arch syndrome and torticollis.

Airway challenges in an adult with hemifacial microsomia along with neglected cleft palate: what to expect?

A female patient in her early 20s, with a known diagnosis of hemifacial microsomia (unilateral microtia and mandibular hypoplasia) accompanied with an unoperated cleft palate, came for an infected mandibular distraction plate removal. The anticipated difficult airway and lack of enough literature about what to expect in such a scenario, along with the psychological impact on the patient, made this case challenging and thought-provoking. Inability to perform the awake tracheal intubation because of the uncooperative patient, along with the difficult fibreoptic owing to narrowed nostrils, offered an extra set of challenges.

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.

Oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome is due to an abnormal development of first and second branchial arches derivatives during embryogenesis and is characterised by hemifacial microsomia associated with auricular, ocular and vertebral malformations. The clinical and genetic heterogeneity of this spectrum with incomplete penetrance and variable expressivity, render its molecular diagnosis difficult. Only a few recurrent CNVs and genes have been identified as causatives in this complex disorder so far. Prenatal environmental causal factors have also been hypothesised. However, most of the patients remain without aetiology. In this review, we aim at updating clinical diagnostic criteria and describing genetic and non-genetic aetiologies, animal models as well as novel diagnostic tools and surgical management, in order to help and improve clinical care and genetic counselling of these patients and their families.