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.

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.

Air Embolism-Induced Ischemic Stroke Following Orthognathic Surgery in a Patient With Goldenhar Syndrome.

Goldenhar syndrome, a rare congenital anomaly, manifests as craniofacial malformations often necessitating intricate surgical interventions. These procedures, though crucial, can expose patients to diverse postoperative complications, including hemorrhage or infection. A noteworthy complication is stroke, potentially linked to air embolism or local surgical trauma. We highlight a case of a male patient, aged 20 years, who experienced a significant postoperative complication of an ischemic stroke, theorized to be due to an air embolism, after undergoing orthognathic procedures for Goldenhar syndrome. The patient was subjected to LeFort I maxillary osteotomy, bilateral sagittal split ramus osteotomy of the mandible, and anterior iliac crest bone grafting to the right maxilla. He suffered an acute ischemic stroke in the left thalamus post-surgery, theorized to stem from an air embolism. Advanced imaging demonstrated air pockets within the cavernous sinus, a rare and concerning finding suggestive of potential air embolism. This case underscores the intricate challenges in treating Goldenhar syndrome patients and the rare but significant risk of stroke due to air embolism or surgical trauma. Limited literature on managing air embolism complications specific to Goldenhar syndrome surgeries exists. Generally, management includes immediate recognition, positional adjustments, air aspiration via central venous catheters, hyperbaric oxygen therapy, hemodynamic support, and high-flow oxygen administration to expedite air resorption. Our patient was conservatively managed post-surgery, and at a 3-month neurology follow-up, he showed significant improvement with only residual right arm weakness. It emphasizes the imperative of a comprehensive, multidisciplinary approach.

Craniofacial Microsomia, Associated Congenital Anomalies, and Risk Factors in 63 Cases from the Alberta Congenital Anomalies Surveillance System.

OBJECTIVE: To report associated congenital anomalies with unexplained craniofacial microsomia (CFM) and the phenotypic overlap with other recurrent constellations of embryonic malformations (RCEM), and to assess prenatal and perinatal risk factors. STUDY DESIGN: This is a retrospective cross-sectional study. Cases with CFM, delivered between January 1, 1997, and December 31, 2019, were abstracted from the population-based Alberta Congenital Anomalies Surveillance System. Livebirths, stillbirths, and early fetal losses were reviewed to include all types of pregnancy outcomes along the spectrum of this condition. Prenatal and perinatal risk factors were compared with the Alberta birth population to assess differences between the 2 groups. RESULTS: There were 63 cases with CFM, yielding a frequency of 1 per 16 949. There was a high rate of cases (65%) with anomalies outside the craniofacial and vertebral regions. Congenital heart defects were the most common (33.3%). A single umbilical artery was found in 12.7% of cases. The twin/triplet rate of 12.7% was significantly higher than the Alberta rate of 3.3% (P < .0001). There was an overlap with a second RCEM condition in 9.5% of cases. CONCLUSIONS: Although CFM is primarily a craniofacial condition, the majority of cases have congenital anomalies affecting other systems requiring additional assessments, including an echocardiogram, renal ultrasound examination, and a complete vertebral radiograph. The high rate of an associated single umbilical artery raises the possibility of a related etiological mechanism. Our findings support the proposed concept of RCEM conditions.

Goldenhar syndrome complicated with subglottic airway stenosis: a case report.

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.

Astigmatic reduction after dermoid excision in a child with Goldenhar syndrome.

Goldenhar syndrome is a rare congenital disorder. Limbal dermoid associated with this syndrome can cause high astigmatism and amblyopia in children. We report significant reduction in astigmatism, after limbal dermoid excision with lamellar keratoplasty, in a rare case of Goldenhar syndrome. A three-year-old female patient, with left-sided limbal dermoid with high astigmatism and amblyopia, was referred to us for visual rehabilitation. The patient had left-sided limbal dermoid and preauricular appendages. Oral examination revealed bifid labial frenum, a deep antegonial notch on the left side of the mandible and missing left upper central incisor teeth. She was diagnosed as a case of Goldenhar syndrome. Her best-corrected visual acuity was 20 of 20 in the right eye and 20 of 200 in the left eye. Refraction showed astigmatism of 10 diopters in her left eye. She underwent limbal dermoid excision with lamellar keratoplasty in her left eye, after which her astigmatism reduced considerably. Early surgical intervention is recommended in cases of limbal dermoid with high astigmatism as it provides not only good cosmetic but also good visual benefits by early institution of treatment for amblyopia.

Avoidant-restrictive food intake disorder in a male patient with Goldenhar syndrome.

BACKGROUND: Goldenhar syndrome (GS) is a rare congenital condition characterized by the underdevelopment of structures deriving from the first and second branchial arches. Clinical phenotype might encompass extra-craniofacial abnormalities, and patients may experience neuropsychiatric disorders with a higher prevalence than healthy controls. To the best of our knowledge, an association between GS and Feeding and Eating Disorders (FED) has never been reported in the literature. CASE REPORT: A 15-year-old boy with GS was referred to our outpatient clinic due to severe underweight (BMI of 12.7 kg/m2) and food intake disorder with avoidant restrictive features. After a diagnosis of avoidant-restrictive food intake disorder (ARFID) was made, an inpatient multidisciplinary intervention and outpatient follow-up program were provided, which resulted in the improvement of the boy's weight and FED psychopathology. CONCLUSIONS: The current report describes the first case of a young male with GS and ARFID. We suggest that ARFID may present itself as part of the spectrum of neuropsychiatric disorders associated with the syndrome; since traumatic experiences and gastrointestinal discomfort play a pivotal role in the development of ARFID among children, attention should be paid to those affected by GS that involves crucial structures in the swallowing process. Further literature evidence will help portray the complex relationship between ARFID and GS more precisely. LEVEL OF EVIDENCE: Level V, case report.

Dental manifestations of a paediatric patient with Goldenhar syndrome.

Goldenhar syndrome (GS) is a rare congenital disorder. It arises from the first pharyngeal pouch, first branchial cleft, first and second branchial arches, and primordia of the temporal bone. It mainly involves abnormalities in the ear, mandibular, and maxillary arches, and is associated with variable clinical features such as skeletal, cardiac, and renal systems. The presence of extra teeth in the dental arch is called supernumerary teeth, and hypodontia refers to congenitally missing teeth. The occurrence of both these anomalies in the same patient is called concomitant hypohyperdontia. However, the GS itself is not very rare, though the presence of concomitant hypohyperdontia has not been reported. The purpose of the present case report is to describe the first case from Saudi Arabia with a characteristic combination of rare findings in a seven-year-old child with comprehensive oral rehabilitation.

Bilateral cranial nerve involvement with facial asymmetry in a case of goldenhar syndrome.

A 9-year-old male patient presented with recurrent episodes of corneal ulcers in both eyes since the age of 2 years. The patient had profound bilateral hearing loss and multiple left-sided preauricular skin tags. He was diagnosed with neurotropic keratitis with bilateral corneal anesthesia in both eyes and on further work-up was diagnosed to have Goldenhar Syndrome with features of left-sided facial skeletal hypoplasia and bilateral auditory nerve atresia. The patient was managed by multiple specialities with standard of care medications, therapies, and procedures and is presently thriving. Goldenhar syndrome is a rare congenital disorder which involves ocular, auricular, and cranial nerves along with facial and vertebral anomalies. The insufficient knowledge of its pathogenesis and variable clinical presentations present a challenge in timely diagnosis and management of these cases. The involvement is generally unilateral and unilateral skeletal asymmetry with bilateral cranial nerve involvement is a rare event. The wide variation in clinical presentation and under diagnosis of these cases in India mandates a better understanding of this entity among medical professionals to facilitate early diagnosis and favorable clinical outcomes.

Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.

Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder of craniofacial morphogenesis. Its etiology is unclear, but assumed to be complex and heterogeneous, with contribution of both genetic and environmental factors. We assessed the occurrence of copy number variants (CNVs) in a cohort of 19 unrelated OAVS individuals with congenital heart defect. Chromosomal microarray analysis identified pathogenic CNVs in 2/19 (10.5%) individuals, and CNVs classified as variants of uncertain significance in 7/19 (36.9%) individuals. Remarkably, two subjects had small intragenic CNVs involving DACH1 and DACH2, two paralogs coding for key components of the PAX-SIX-EYA-DACH network, a transcriptional regulatory pathway controlling developmental processes relevant to OAVS and causally associated with syndromes characterized by craniofacial involvement. Moreover, a third patient showed a large duplication encompassing DMBX1/OTX3, encoding a transcriptional repressor of OTX2, another transcription factor functionally connected to the DACH-EYA-PAX network. Among the other relevant CNVs, a deletion encompassing HSD17B6, a gene connected with the retinoic acid signaling pathway, whose dysregulation has been implicated in craniofacial malformations, was also identified. Our findings suggest that CNVs affecting gene dosage likely contribute to the genetic heterogeneity of OAVS, and implicate the PAX-SIX-EYA-DACH network as novel pathway involved in the etiology of this developmental trait.

Craniofacial and airway morphology of individuals with oculoauriculovertebral spectrum.

OBJECTIVES: The objectives of this study were to characterize the craniofacial and airway morphology of oculo-auriculo-vertebral spectrum (OAVS) individuals using computed tomography (CT) examination. SETTING AND SAMPLE POPULATION: This sample included individuals in the age range from 5 to 14 years, consisted of a group of 18 OAVS individuals (12 females and 6 males), Pruzansky-Kaban1 IIB and III and by a paired control group matched by age and sex for comparison of morphometric and airway variables. MATERIALS AND METHODS: Through the CT examination, airway analysis was performed using Dolphin Imaging® Software, and seven morphometric measurements were performed to evaluate craniofacial morphology by Materialize Mimics® Software. To compare airway and morphometric variables, the control group was used. Student's t test and Mann-Whitney U test were performed to compare differences between the groups. RESULTS: Statistically significant differences were showed between the control and OAVS groups for the variables: total airway (TA) area, volume and MAA, RP area, RP volume, RP MAA, RG volume, RG MAA, total posterior height diff, Md incl and y-axis asymmetry. Pearson and Spearman's correlation showed mostly moderate correlations between Mand Occlusal canting AS with TA area and RP volume, Ax-Gn with TA area and Hy-C3 with TA volume. CONCLUSIONS: The OAVS's airway was altered and worse than the control group. Our results suggest that the contralateral side of OAVS individuals is unaffected; however, longitudinal assessments are needed to confirm it. Hyoid bone and postural measures play an important role in interpreting airway features of individuals with and without OAVS.

Genomic imbalances in craniofacial microsomia.

The aim of this study was to perform 22q11.2 deletion screening and chromosomal microarray analysis (CMA) in individuals clinically diagnosed with craniofacial microsomia (CFM) and review previously published cases of CFM with genomic imbalances. It included 54 individuals who were evaluated by a clinical geneticist. Copy number variants (CNVs) in the 22q11.2 region were investigated by multiplex ligation-dependent probe amplification (MLPA) for all individuals. The CMA was performed only for individuals with additional major features. MLPA revealed pathogenic CNVs at the 22q11 region in 3/54 (5.6%) individuals. CMA revealed pathogenic CNVs in 4/17 (23.5%) individuals, including the three CNVs at the 22q11 region also detected by MLPA, and CNVs classified as variants of unknown significance (VOUS) in 4/17 (23.5%) individuals. Pathogenic alterations were found at the 2p12, 5p15, 13q13, and 22q11 regions. VOUS were found at 3q29, 5q22.2, 5q22.1, and 9p22 regions. All individuals with pathogenic alterations presented additional major features, including congenital heart disease (CHD). The literature review revealed pathogenic CNVs in 17/193 (8.8%) individuals and most of them also presented additional major features, such as CHD, renal anomalies, or developmental delay. In conclusion, CNVs should be investigated in patients with CFM and additional major features.

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.

Ophthalmic features and management outcomes of 30 children having Goldenhar syndrome.

PURPOSE: To study the ophthalmic clinical profile and the management outcomes of children having Goldenhar syndrome (GS). METHODS: Retrospective review of included children fulfilling the diagnostic criteria of GS was performed. The demography, ophthalmic features, systemic anomalies, and treatment outcomes were recorded manually from patient files. An ENT, pediatrics, cardiology, and orthopedics consultation was sought for all GS patients before taking up for any ophthalmic surgical procedure. The anatomical (ocular surface and eyelid) and functional {vision and extraocular movements (EOM)} factors were exclusively studied. We ensured a minimum postoperative follow-up of 12 months, and our data were compared with the major studies featuring 'ophthalmic features' of GS. RESULTS: Totally 30 children (females = 18, 60%) were included with a median presenting age of 48 months. Twenty-seven (90%) had unilateral ophthalmic involvement with major features being upper eyelid coloboma (n = 25, 75.76%), lipodermoid (n = 18, 54.55%), and limbal dermoid (n = 10, 30.3%). Diminution of visual acuity was recorded in 22 (73.3%), while five (16.7%) had limitation of EOM. Systemically, the prominent features included hemifacial hypotrophy (100%), auricular anomalies (80%), cardiac anomalies (10%), and scoliosis (6.67%). The eyelid colobomas were repaired with the direct closure ± cantholysis technique or using a Tenzel's flap. All children had satisfactory anatomical and functional outcomes after ophthalmic surgical interventions without any significant complications. CONCLUSION: The tailored ophthalmic surgical intervention(s) provides satisfactory restoration of anatomy and functionality of the eye. These children need specific multi-discipline consultations for the holistic management and complete care.

A novel nonsense substitution identified in the AMIGO2 gene in an Occulo-Auriculo-Vertebral spectrum patient.

OBJECTIVE: Craniofacial microsmia is the second most common congenital disorder with mostly unilateral defects of ear, temporomandibular joint, mandible, and muscles of facial expression and mastication. The objective of this study was to identify, if there were any, de novo germline or somatic variants in a patient with Occulo-Auriculo-Vertebral Spectrum (OAVS) using whole-exome sequencing. SETTINGS AND SAMPLE POPULATION: Trio/Family-based study of an OAVS proband. MATERIALS AND METHODS: Children's Mercy Hospital Institutional Review Board approved this study and a request-to-rely was procured from the University of Missouri Kansas City IRB. Informed assent/consent was obtained for all family members prior to any research activities. The peripheral blood/affected side tissues from corrective surgery of the proband and peripheral blood samples from unaffected parents were collected. The isolated genomic DNA were enriched for exomes and sequenced on an Illlumina HiSeq 2500 instrument yielding paired-end 125 nucleotide reads (84X coverage). Gapped alignment to reference sequences (GRCh37.p5) was performed with BWA and the GATK and analysis completed using custom-developed software. RESULTS: Analyses revealed that the proband carried a de novo germ line nonsense substitution (c.901C>T) in AMIGO2 gene, and missense substitutions in ZCCHC14 (c.1198C>T), and in SZT2 genes (c.2951C>T). CONCLUSIONS: The nonsense substitution in AMIGO2 gene introduces a premature stop codon possibly rendering the gene non-functional via nonsense-mediated pathway decay-therefore considered a stronger candidate. Further functional studies are required to confirm whether loss-of-function variants in AMIGO2 can cause OAVS.

Clinical and cytogenomic findings in OAV spectrum.

The oculoauriculovertebral spectrum (OAVS) is characterized by anomalies involving the development of the first and second pharyngeal arches during the embryonic period. The phenotype is highly heterogeneous, involving ears, eyes, face, neck, and other systems and organs. There is no agreement in the literature for the minimum phenotypic inclusion criteria, but the primary phenotype involves hemifacial microsomia with facial asymmetry and microtia. Most cases are sporadic and the etiology of this syndrome is not well known. Environmental factors, family cases that demonstrate Mendelian inheritance, such as preauricular appendages, microtia, mandibular hypoplasia, and facial asymmetry; chromosomal abnormalities and some candidate genes suggest a multifactorial inheritance model. We evaluated clinical, cytogenomic and molecularly 72 patients with OAVS, and compared our findings with patients from the literature. We found 15 CNVs (copy number variations) considered pathogenic or possibly pathogenic in 13 out of 72 patients. Our results did not indicated a single candidate genomic region, but recurrent chromosomal imbalances were observed in chromosome 4 and 22, in regions containing genes relevant to the OAVS phenotype or related to known OMIM diseases suggesting different pathogenic mechanisms involved in this genetically and phenotypic heterogeneous spectrum.

Goldenhar syndrome with blepharophimosis and limb deformities: a case report.

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.

Salivary glands abnormalities in oculo-auriculo-vertebral spectrum.

BACKGROUND: Feeding and swallowing impairment are present in up to 80% of oculo-auriculo-vertebral spectrum (OAVS) patients. Salivary gland abnormalities have been reported in OAVS patients but their rate, features, and relationship with phenotype severity have yet to be defined. MATERIAL AND METHODS: Parotid and submandibular salivary gland hypo/aplasia was evaluated on head MRI of 25 OAVS patients (16 with severe phenotype, Goldenhar syndrome) and 11 controls. RESULTS: All controls disclosed normal salivary glands. Abnormal parotid glands were found exclusively ipsilateral to facial microsomia in 21/25 OAVS patients (84%, aplasia in six patients) and showed no association with phenotype severity (14/16 patients with Goldenhar phenotype vs 7/9 patients with milder phenotype, p = 0.6). Submandibular salivary gland hypoplasia was detected in six OAVS patients, all with concomitant ipsilateral severe involvement of the parotid gland (p < 0.001). Submandibular salivary gland hypoplasia was associated to Goldenhar phenotype (p < 0.05). Parotid gland abnormalities were associated with ipsilateral fifth (p < 0.001) and seventh cranial nerve (p = 0.001) abnormalities. No association was found between parotid gland anomaly and ipsilateral internal carotid artery, inner ear, brain, eye, or spine abnormalities (p > 0.6). CONCLUSIONS: Salivary gland abnormalities are strikingly common in OAVS. Their detection might help the management of OAVS-associated swallowing and feeding impairment.

Hearing characterization in oculoauriculovertebral spectrum: A prospective study with 10 patients.

Oculoauriculovertebral spectrum (OAVS), also known as Goldenhar syndrome, is considered a condition associated to failing of embryogenesis involving the first and second branchial arches, leading to structural abnormalities arising from it. The aim of this study is to verify the hearing features presented by patients with OAVS and provide additional information that may contribute to improvement of speech therapy. The sample consisted of 10 individuals diagnosed with OAVS and cared for by the Clinical Genetics Service. All patients underwent objective assessment of auditory function through tonal and vocal audiometry. This evaluation was completed using TOAE and BERA. The patient's age ranged from 1 year and 9 months to 27 years and 4 months. At physical examination it was found that 10 had microtia, 7 preauricular tags, 6 low-set ears, 6 ear canal atresia, and 2 preauricular pits. Among the patients, five presented with abnormal hearing. Three patients had conductive hearing loss ranging from mild to moderate, and two patients had sensorineural hearing loss from mild to profound. Three patients had hearing loss in both ears. Speech-language disorders are common in children with OAVS. Thus, the referral to the audiologist and speech pathologist is indicated as soon as possible. Early recognition and detailed understanding of aspects related to the etiology, clinical features, and outcome of patients with OAVS are essential for their proper management. © 2016 Wiley Periodicals, Inc.

Oculo-auriculo-vertebral spectrum: going beyond the first and second pharyngeal arch involvement.

INTRODUCTION: Intracranial vascular, bone, and brain abnormalities might be observed in oculo-auriculo-vertebral spectrum (OAVS) patients even though these structures do not derive embryologically from the first and second pharyngeal arches. This neuroimaging study investigated their type, frequency and phenotype correlations among OAVS patients. METHODS: Thirty-five OAVS patients (mean-age 4.8 ± 6.0 years; age range 0.3-30, 14 females) underwent head CT (all patients) and brain MRI (32 patients); 19 patients had a more severe phenotype (Goldenhar syndrome). Internal carotid artery hypoplasia/agenesia and abnormal course, brain abnormalities, internal acoustic canal stenosis/aplasia, cochlear-vestibular malformations, facial nerve bony canal anomalies, and oval window atresia were recorded. RESULTS: Nine of 35 (26%) OAVS patients showed internal carotid artery anomalies; 18/32 (56%) had protean brain MRI abnormalities, ranging from tegmental cap anomaly to mild ventriculomegaly, which were associated with Goldenhar syndrome (p < 0.001) and concomitant cranial nerve abnormalities (p = 0.004); 11/35 (31%) disclosed cochlear-vestibular abnormalities including Michel deformity, common cavity, cochlear hypoplasia, and incomplete partition type-1 that were associated with Goldenhar syndrome (p = 0.01) and ipsilateral VIII cranial nerve abnormalities (p < 0.001); 16/35 (46%, 23 sides) presented facial nerve bony canal abnormalities that were associated with Goldenhar syndrome (p < 0.001) and ipsilateral VII cranial nerve (p < 0.001) and cochlear-vestibular (p < 0.001) abnormalities; and 23/31 (74%, 31 sides) showed oval window atresia, always with concomitant ossicular chain dysplasia. CONCLUSIONS: Intracranial vascular, bone, and brain abnormalities in OAVS patients are strikingly common and heterogeneous. As their detection might impact significantly on clinical and surgical management of affected patients, accurate neuroimaging investigations should be included in the diagnostic work-up of OAVS.