Goldenhar syndrome with combined external, middle, and inner ear anomalies with aplasia of internal auditory canal: a case report

Abstract

Background

Goldenhar syndrome, also referred to as oculo-auriculo-vertebral spectrum, is a rare congenital disorder involving malformations of the first and second branchial arches. It is characterized by craniofacial anomalies such as microtia, mandibular hypoplasia, and vertebral defects, with an estimated prevalence ranging from 1 in 3,500 to 1 in 45,000 live births.

Case Description

This report describes a 5-year-old girl with clinical features consistent with Goldenhar syndrome, including left-sided craniofacial microsomia, grade III microtia, and profound congenital sensorineural hearing loss. Radiologic evaluation demonstrated combined external, middle, and inner ear anomalies with aplasia of the internal auditory canal (IAC). The patient also developed ipsilateral infected first cleft cyst that was refractory to conservative management and progressed to abscess formation requiring surgical intervention. The presence of IAC aplasia carries important therapeutic implications, as it prevents cochlear implantation and necessitates consideration of alternative hearing rehabilitation strategies. Long-term follow-up until the age of 12 years demonstrated stable clinical status, continued unilateral profound hearing loss with contralateral functional hearing, and satisfactory academic progress with appropriate educational support.

Conclusions

This case highlights a rare constellation of external, middle, and inner ear anomalies with IAC aplasia in Goldenhar syndrome, underscoring the importance of detailed radiologic assessment, recognition of atypical manifestations, and coordinated multidisciplinary management in patients with complex craniofacial syndromes.

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Key findings

• This case report describes a rare presentation of Goldenhar syndrome with combined anomalies of the external, middle, and inner ear, accompanied by complete aplasia of the internal auditory canal.

• The combination of multi-level ear malformations with aplastic internal auditory canal is exceptionally uncommon and poses significant diagnostic and rehabilitative challenges.

What is known and what is new?

• Goldenhar syndrome is a congenital condition characterized by craniofacial anomalies, most commonly affecting the eyes, ears, and vertebrae. Ear involvement typically includes microtia, external auditory canal atresia, and middle ear malformations, often leading to conductive hearing loss. Inner ear anomalies are less frequently reported, and internal auditory canal abnormalities are considered rare within this spectrum.

• This case report adds a unique case demonstrating concurrent involvement of all three components of the ear, along with complete aplasia of the internal auditory canal. Such a combination significantly limits conventional hearing rehabilitation options, including cochlear implantation. The report highlights the importance of comprehensive radiological evaluation in identifying these rare associations and expands the phenotypic spectrum of Goldenhar syndrome.

What is the implication, and what should change now?

• This case underscores the need for early, detailed imaging in patients with Goldenhar syndrome to assess candidacy for hearing interventions. Clinicians should be aware that profound anatomical abnormalities may preclude standard treatments, necessitating alternative approaches such as bone conduction devices or multidisciplinary supportive care. Future practice should emphasize individualized assessment and early counseling for patients and families regarding realistic rehabilitation outcomes.

Introduction

Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum (OAVS), is a rare congenital condition characterized by developmental anomalies of the first and second branchial arches. It is a complex disorder with a variable clinical presentation, including facial asymmetry, ear and ocular malformations, and vertebral anomalies. The syndrome can affect multiple systems, resulting in a diverse array of symptoms (1). The prevalence of Goldenhar syndrome is estimated to be approximately 1 in 3,500 to 45,000 live births (2). It is considered a rare condition, and its prevalence varies across different populations. The syndrome occurs sporadically, with few cases reported in families with a known history of the disorder (3).

Disturbances during embryogenesis, particularly involving the first and second branchial arches, are central to the craniofacial anomalies seen in Goldenhar syndrome. These include microtia, hemifacial microsomia, and other ear and mandibular abnormalities. Maldevelopment of structures derived from the first branchial arch affects the ear, temporomandibular joint, mandibular ramus, and mastication muscles, while defects in the second branchial arch lead to issues with the facial nerve and facial muscles (4,5). Goldenhar syndrome presents with a range of features, including craniofacial anomalies such as facial asymmetry, microtia, and mandibular hypoplasia. Hearing impairment is another characteristic feature, often associated with structural abnormalities of the external, middle and inner ear (6). Thus, involvement of the vestibulocochlear nerve is another association of the syndrome. Ocular anomalies, including epibulbar dermoids and colobomas, are also common. Skeletal deformities, including limb anomalies and spinal deformities, are also present in some cases. The clinical presentation can vary widely among affected individuals, making diagnosis challenging (2).

The prognosis of patients with Goldenhar syndrome largely depends on the severity and extent of associated anomalies, particularly those affecting hearing, craniofacial development, and other organ systems (7). As described in previous reports, hearing rehabilitation in patients with Goldenhar syndrome can be achieved through conventional approaches such as reconstructive surgery for external or middle ear anomalies, bone-conduction hearing devices, or cochlear implantation when the cochlea and vestibulocochlear nerve are intact (8). However, the presence of inner ear malformations and aplasia of the internal auditory canal (IAC) represents a significant therapeutic challenge, as it is frequently associated with absence or severe hypoplasia of the vestibulocochlear nerve. In such cases, cochlear implantation is not feasible, substantially limiting available options for auditory rehabilitation and requiring alternative strategies for hearing support and communication development, such as soft band bone-anchored hearing aid (BAHA). IAC aplasia is rarely described in patients with Goldenhar syndrome, as inner ear anomalies extend beyond the developmental derivatives of the first and second branchial arches, unlike external and middle ear anomalies. The presence of IAC aplasia carries significant diagnostic and therapeutic implications, particularly with regard to cochlear implant candidacy and long-term hearing management (6).

The objective of this case report is to present a comprehensive clinical profile of a 5-year-old girl with Goldenhar syndrome, highlighting her unique manifestations of combined left external, middle, and inner ear anomalies, along with an aplastic IAC. This report aims to enhance understanding of the syndrome’s clinical spectrum, emphasize the importance of a multidisciplinary management approach, and contribute to the body of literature by documenting a rare presentation. We present this article in accordance with the CARE reporting checklist (available at https://acr.amegroups.com/article/view/10.21037/acr-2025-271/rc).

Case presentation

A 5-year-old girl presented to the pediatric otorhinolaryngology clinic, at Abha Maternity and Children Hospital, Southern Saudi Arabia, with a primary complaint of left-sided deafness, accompanied by an abnormally shaped external ear since birth. The patient had a history of ventricular septal defect, which subsequently resolved spontaneously.

The perinatal history revealed that she was born at term through an uncomplicated normal vaginal delivery, with no need for neonatal intensive care unit admission. There was no significant maternal history during pregnancy, such as infections, use of topical or systemic teratogenic medications, smoking, or substance abuse. Furthermore, the family history was unremarkable, with no history of consanguinity, and no known genetic disorders or similar congenital anomalies reported in close relatives.

On examination, the patient had noticeable facial asymmetry, characterized by left-sided craniofacial microsomia with a leftward deviation of the angle of the mouth and absence of wrinkles on the left side of the forehead, indicating facial palsy. Hypoplasia of the muscles of mastication and facial expression was noted on the left side (Figure 1). The patient exhibited a left eye squint. The left ear presented with preauricular skin tags, and grade 3 microtia; showing a severely underdeveloped external ear with only a small remnant of skin and cartilage (Figure 2). The right ear was normally developed with no visible anomalies or skin tags. In addition, the patient presented with a skeletal deformity, associated with postural asymmetry, visible back curvature, and upper limb anomalies presenting with disproportionately short fingers (Figure 3).

Figure 1.

Facial asymmetry with a leftward deviation of the angle of the mouth, absence of wrinkles in left forehead, and left eye strabismus.This image is published with the consent of patient's legal guardian.

Figure 2.

Clinical image of the left ear demonstrating grade 3 microtia (aural atresia) and preauricular skin tags.

Figure 3.

Brachydactyly of both hands.

The pediatric audiological assessment revealed well-developed speech and language skills, with average physical, mental, and emotional development. Audiometric testing showed normal hearing in the right ear with an excellent word discrimination score (WDS). The left ear exhibited profound sensorineural hearing loss (SNHL) with a no WDS. Responses during testing were consistent with tactile rather than auditory perception, indicative of the profound nature of the hearing loss (Figure 4).

Figure 4.

Audiogram showed (A) normal hearing in the right ear and (B) profound sensorineural hearing loss in the left ear.

The patient was further investigated using plain frontal X-ray, which showed pronounced S-shaped curvature with thoracic levoscoliosis and lumbar dextroscoliosis (Figure 5). The alignment and degree of curvature in both regions are clearly visible, illustrating the characteristic features of significant S-shaped scoliosis. Imaging studies, including high-resolution temporal bone computed tomography (CT) and magnetic resonance imaging (MRI), were performed to evaluate the structures of the external, middle, and inner ear. The CT scan revealed hypoplasia of the left external auditory canal, middle ear and the ossicles appeared significantly hypoplastic with soft tissue opacification, left IAC was aplastic, and the left-sided cochlea was hypoplastic (Figure 6). The MRI further demonstrated a hypoplastic left external ear canal. The middle ear bones were ill-defined, and there was aplasia of the left IAC. Additionally, there was deformity of the left inner ear structures, where the cochlea and vestibule merged together forming a common cavity anomaly (Figure 7). In contrast, the right ear, auditory canal, and vestibulocochlear nerve appeared normal. The brain parenchyma, ventricles, cranio-cervical junction, and sinuses were also normal.

Figure 5.

Spinal X-ray demonstrating S-shaped scoliosis with thoracic levo-convexity and lumbar dextro-convexity.

Figure 6.

CT scans of the temporal bone (bone window) demonstrating left-sided ear anomalies in a patient with Goldenhar syndrome. (A) Axial view showing aplasia of left internal auditory canal, cochlea and vestibule merging together and form common cavity anomaly, and hypopneumatisation of the left mastoid air cells (arrows). (B) Axial view showing hypoplasia of the left jugular fossa and a dilated left Eustachian tube (arrows). (C) Axial view showing significant hypoplasia of the ossicles with soft tissue opacification (arrow). (D) Coronal view showing aplasia of left internal auditory canal (arrows). (E) Coronal view showing hypoplasia of the left cochlea (arrows). CT, computed tomography.

Figure 7.

T2-weighted MRI of the temporal bone demonstrating internal auditory canal aplasia. (A) Axial T2-weighted MRI showing internal auditory canal aplasia on the left side (arrow). (B) Sagittal T2-weighted MRI confirming internal auditory canal aplasia (arrow).

Differential diagnosis was carefully considered given the presence of craniofacial anomalies involving structures derived from the first and second branchial arches. Syndromes with overlapping phenotypic features, including Treacher Collins syndrome, Townes–Brocks syndrome, and Branchio-Oto-Renal syndrome, were evaluated. Treacher Collins syndrome was ruled out due to the unilateral distribution of craniofacial abnormalities in this patient, as the condition typically presents with bilateral and symmetrical craniofacial involvement (9). Townes-Brocks syndrome was excluded based on the absence of characteristic features such as anal malformations, thumb anomalies, and renal abnormalities (10). Branchio-Oto-Renal syndrome was also considered due to the presence of left preauricular skin tags; however, the patient lacked renal malformations typically associated with this condition, and the overall presentation of unilateral facial asymmetry, vertebral anomalies, and combined external, middle, and inner ear malformations was most consistent with Goldenhar syndrome (11). Given the combination of unilateral craniofacial microsomia, grade III microtia, profound SNHL, and skeletal deformities, the diagnosis of Goldenhar syndrome was established based on clinical criteria (12). The patient was managed with a BAHA for profound SNHL per the parents’ preference, which she tolerated well and used consistently.

At the age of 7 years, the patient presented to the emergency department with a 2-week history of fever and painful left preauricular swelling, associated with left ear pain. She denied dysphagia, shortness of breath, or stridor. She was fully vaccinated and had no history of recent contact with sick individuals. The patient has a history of recurrent left-sided infected first branchial cleft cyst since the age of 2 years, which was managed conservatively at another hospital with antibiotics during each episode.

Upon examination, the patient was conscious and oriented, with vital signs showing a temperature of 38.3 ℃, oxygen saturation of 97%, and a heart rate of 118 bpm. The local examination revealed a red, hot, and tender swelling measuring 3 cm × 5 cm, located in the left preauricular area with pus discharge, and no associated lymph node enlargement (Figure 8). The throat was clear, and the nasal passages were patent. Laboratory results showed a white blood cell (WBC) count of 9.21×10³/µL, hemoglobin level of 11 g/dL, platelet count of 587×10³/µL, creatinine level of 0.34 mg/dL, sodium level of 137 mEq/L, potassium level of 4.9 mEq/L, and an erythrocyte sedimentation rate (ESR) of 25 mm/hr. Pus culture and sensitivity testing showed no bacterial growth.

Figure 8.

Clinical photograph showing a red swelling measuring 3 cm × 5 cm in the left preauricular area with pus discharge.

An ultrasound of the neck showed evidence of left preauricular collection with surrounding significant inflammatory changes in the form of echogenic fat and lymphadenopathy. Moreover, Doppler ultrasound of the neck was done and it showed left preauricular collection with no internal vascularity, confirming that it was an abscess collection (Figure 9). An enhanced CT scan of the neck was performed, and it showed a 3.5 cm × 2.4 cm × 2.4 cm cystic hypodense swelling in the left preauricular region demonstrating ring enhancement, which was suggestive of infected first branchial cyst anomaly (Figure 10). The patient was admitted for surgical management. She received ceftriaxone 350 mg IV BID, clindamycin 210 mg IV Q6H, and paracetamol 210 mg IV Q6H. She underwent incision and drainage of the left first branchial cleft cyst with abscess formation under general anesthesia, with concurrent removal of the skin tags.

Figure 9.

Ultrasound and Doppler evaluation of left preauricular collection with surrounding inflammation. (A) Neck ultrasound showing a left preauricular collection with significant surrounding inflammatory changes, including echogenic fat and lymphadenopathy. (B) Doppler neck ultrasound demonstrating a left preauricular collection with no internal vascularity.

Figure 10.

Contrast-enhanced CT scan of the neck. (A) Axial view showing a 3.5 cm × 2.4 cm × 2.4 cm cystic hypodense swelling (arrow) in the left preauricular region demonstrating ring enhancement. (B) Coronal view showing a 3.5 cm × 2.4 cm × 2.4 cm cystic hypodense swelling (arrow) in the left preauricular region demonstrating ring enhancement. (C) Sagittal view showing a 3.5 cm × 2.4 cm × 2.4 cm cystic hypodense swelling (arrow) in the left preauricular region demonstrating ring enhancement. CT, computed tomography.

The patient is now 12 years old. A timeline summarizing the key clinical events from birth through diagnosis, episodes of infected first branchial cleft cyst anomaly, surgical management, and follow-up is presented in Figure 11. She shared her experience and feelings regarding her condition and management. She is aware of her external ear deformity and has accepted it; with the support of her parents, she maintains a positive outlook. She loves school and spending time with her friends and teachers, and she performs well academically, consistently earning good grades. Regarding the hearing aid, she expressed that it has helped her communicate more easily at school, though she sometimes feels frustrated with its daily maintenance. Her parents agree that she is an excellent student and they are satisfied with her hearing improvement, which has positively influenced her developmental and academic progress. Her care plan involved a multidisciplinary approach, incorporating expertise from otorhinolaryngology, audiology, craniofacial surgery, cardiology, orthopedics, and genetics. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration and its subsequent amendments. Written informed consent was obtained from the patient’s father for publication of this case report and accompany images. A copy of the written consent is available for review by the editorial office of this journal.

Figure 11.

Timeline of the patient’s clinical course from birth to age of 12 years, highlighting congenital ear deformity, diagnosis of Goldenhar syndrome, episodes of first branchial cleft cyst, management, and current follow-up.

Discussion

Goldenhar syndrome is a rare congenital condition characterized by developmental anomalies of the first and second branchial arches. The syndrome can affect multiple systems, resulting in a diverse array of symptoms (1). Its rarity, combined with the variability in presentation, contributes to the complexity of diagnosis and management.

This case presented with craniofacial anomalies, including, facial asymmetry, microtia, and mandibular hypoplasia, in line with previously reported publications (13,14). Moreover, hearing impairment is another characteristic feature, often associated with structural abnormalities of the ear and the vestibulocochlear nerve (6,15). A significantly rare feature in this case is the presence of IAC aplasia with absence of the vestibulocochlear nerve. This finding has important implications for auditory rehabilitation. Cochlear implantation requires an intact cochlear nerve to transmit electrical signals from the implant to the auditory pathways. In cases where the vestibulocochlear nerve is absent, cochlear implantation is not feasible (16). Therefore, the use of BAHA represented the most appropriate rehabilitation strategy in this patient, allowing sound transmission through bone conduction to the contralateral functioning cochlea. This approach provided meaningful auditory benefit and supported the patient’s communication abilities and academic performance. According to the literature, external ear involvement is a well-known feature of the syndrome and inner ear involvement is rarely observed (17). Rosa et al. reported 12 cases of Goldenhar syndrome, with all patients exhibiting ear involvement, affecting the external, middle, and inner ear in 12, 8, and 3 cases, respectively. Therefore, the coexistence of external, middle, and inner ear anomalies in a single patient is rare, making this case a contributing addition to the literature. Moreover, microtia was the most commonly observed anomaly, present in all cases, mostly as unilateral, left-sided, and grade III, which was consistent with this case report (6).

Ocular anomalies, including epibulbar dermoids and colobomas, are also common. Notably, this case presented with left-sided strabismus, further contributing to the limited reports of this association (18,19). Skeletal deformities, including limb anomalies and spinal deformities, are also present in some cases (7). The patient in this case presented with significant S-shaped scoliosis and brachydactyly of both hands.

Another important aspect to consider in this case is the role of first branchial arch anomalies, which are known to contribute to first branchial cleft cyst development. The first branchial arch gives rise to key structures such as the mandible, the muscles of mastication, the external ear, and parts of the middle ear (4). Jakubíková et al. described Type II first branchial cleft anomalies as lesions that traverse the parotid gland, with their course potentially lying medial or lateral to the facial nerve, or even crossing multiple branches. These anomalies can terminate in the cartilaginous portion of the external auditory canal or extend to the face or upper neck (20). In our case, the patient presented with recurrent first branchial cleft cyst.

The clinical presentation can vary widely among affected individuals, making diagnosis challenging (2). This highlights a limitation of the present report, which is the lack of a confirmatory test for the syndrome. This case presented with the familiar reported features of Goldenhar syndrome; however, it also presented with a rare feature, which is aplasia of the IAC. This report aims to enhance understanding of the syndrome’s clinical spectrum, emphasize the importance of a multidisciplinary management approach, and contribute to the body of literature by documenting a rare presentation.

Conclusions

The patient’s complex presentation underscores the importance of a comprehensive and multidisciplinary approach to management. This case report adds to the existing literature on Goldenhar syndrome by presenting a unique manifestation of aplasia of IAC. The integration of audiological, surgical, and genetic expertise is crucial in optimizing outcomes for patients with this rare and multifaceted condition.

Supplementary

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Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration and its subsequent amendments. Written informed consent was obtained from the patient’s father for publication of this case report and accompany images. A copy of the written consent is available for review by the editorial office of this journal.