|Year : 2021 | Volume
| Issue : 4 | Page : 442-445
Hemifacial microsomia and bilateral Mondini dysplasia: A rare clinical presentation
Padma Ramesh, Vaishali Sangole, Aathira Neelikattu
Department of ENT, MGM Medical College and Hospital, Kamothe, Navi Mumbai, Maharashtra, India
|Date of Submission||30-Jun-2021|
|Date of Acceptance||27-Sep-2021|
|Date of Web Publication||22-Dec-2021|
Dr. Padma Ramesh
Department of ENT, MGM Medical College and Hospital, Kamothe, Navi Mumbai 410209, Maharashtra.
Source of Support: None, Conflict of Interest: None
We present a rare association of bilateral Mondini dysplasia with hemifacial microsomia (HFM). HFM is a clinical spectrum of malformations involving the orbit, mandible, ears, facial nerve, and soft tissues of the face. It occurs in about 1 in 5600 births and requires a multidisciplinary approach to management. We report a case of HFM in an 11-year-old girl who presented with recurrent discharge from the nasal dorsum, and facial asymmetry since birth but was otherwise asymptomatic. The hearing evaluation revealed bilateral sensorineural hearing loss. High-resolution computed tomography scan of the temporal bones showed bilateral Mondini dysplasia of the inner ear which to the best of our knowledge has not been previously reported in HFM. We conclude that all cases of HFM regardless of symptomatology should undergo hearing evaluation. This will facilitate rehabilitation of deafness if present.
Keywords: Craniofacial anomalies, hemifacial microsomia, Mondini dysplasia
|How to cite this article:|
Ramesh P, Sangole V, Neelikattu A. Hemifacial microsomia and bilateral Mondini dysplasia: A rare clinical presentation. MGM J Med Sci 2021;8:442-5
|How to cite this URL:|
Ramesh P, Sangole V, Neelikattu A. Hemifacial microsomia and bilateral Mondini dysplasia: A rare clinical presentation. MGM J Med Sci [serial online] 2021 [cited 2022 May 17];8:442-5. Available from: http://www.mgmjms.com/text.asp?2021/8/4/442/333315
| Key Messages:|| |
All cases of HFM regardless of symptomatology should undergo a hearing evaluation to facilitate rehabilitation of deafness if present.
| Introduction|| |
Hemifacial microsomia (HFM) is a variable spectrum of malformations involving the orbit, mandible, ears, facial nerve, and soft tissues of the face, resulting from a failure of normal development of structures derived from the first and second branchial arches. Incidence is 1 in 5600 births with most cases being sporadic, although autosomal dominant or recessive inheritance has been reported. Synonyms for HFM include oculo-auriculo-vertebral dysplasia, Goldenhar-Gorlin syndrome, first and second branchial arch syndromes, and facio-auriculo-vertebral malformation complex.
| Case history|| |
An 11-year-old girl presented with recurrent discharge from the nasal dorsum and a nonprogressive facial asymmetry since birth. The discharge was scanty, watery, nonoffensive, and nonsanguinous, from a small opening on the nasal dorsum, and occurred for 2–3 days every month. She gave no history of aural symptoms, hearing loss, or systemic illness. Her parents had a nonconsanguinous marriage. Her mother’s antenatal, natal, and postnatal history was unremarkable. There was no similar condition in other family members.
General and systemic examinations were normal. HFM was noted [Figure 1] with poorly developed mandible, accessory auricle, and pre-auricular skin tags on the left side. A small sinus over the cartilaginous nasal dorsum did not discharge on applying pressure. The nose was otherwise normal. On opening the mouth, the mandible deviated to the left. The oral cavity and throat were normal. The left ear showed normal pinna with an accessory auricle, and skin tags in the left pre-auricular area and over the left cheek [Figure 2]. The left external auditory canal was narrow and distorted with a bony protuberance over its anterior wall, but the tympanic membrane appeared normal. The right ear was normal. Clinical hearing assessment and pure tone audiometry showed a bilateral sensorineural hearing loss, mild in the right ear and moderate in the left.
|Figure 1: Frontal view of left hemifacial microsomia with the poorly developed left side of the mandible and a sinus over the nasal dorsum|
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|Figure 2: Right and left lateral views showing left accessory auricle and preauricular skin tags|
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Contrast-enhanced computed tomography (CT) scan of the face showed facial asymmetry with the hypoplastic left mandible (predominantly condyle and ramus) [Figure 3]. The left mandibular ramus was medially angulated and the left temporomandibular joint shallow, with reduced bulk of the left masseter, temporalis, and pterygoid muscles. The nasal dorsal sinus had a small tract localized to soft tissue without intranasal or intracranial extension. The left ear was deformed with pre-auricular skin tags and an anteriorly angulated external auditory canal. The cervical spine showed slight asymmetry of the lateral atlanto-odontoid space, which was reduced on the right. The right hemi-mandible, other skull bones, paranasal sinuses, and neck spaces had a normal radiological appearance.
A high-resolution CT scan of the temporal bone showed bilateral dysplastic cochleae with only one-and-a-half turns and a normal modiolus. The mid and apical turns of the cochlea were fused into a single cavity with an absent inter-scalar septum [Figure 4]. Bilateral vestibules appeared mildly prominent but vestibular aqueducts were not dilated. The bony labyrinths, semicircular canals, facial nerves, internal acoustic meati, mastoid air cell systems, middle ear, and ossicles were normal. This indicated bilateral type II (incomplete partition) Mondini dysplasia.
|Figure 4: High-resolution CT scan of temporal bones showing bilateral Mondini dysplasia of the cochlea|
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Ultrasound scan of the abdomen and pelvis showed normal kidneys. X-ray cervical spine and ophthalmological evaluation including fundoscopy were normal. Echocardiogram and color Doppler study showed normal cardiac valves and severe diastolic dysfunction.
A diagnosis of HFM with Bilateral Sensorineural Hearing Loss was made. The patient’s parents refused brainstem-evoked response audiometry and genetic testing. She was referred to maxillofacial surgery and reconstructive surgery services for further management. However, the parents of the child did not report back and patient was lost to follow-up.
| Discussion|| |
In 2009, Werler et al. suggested that the risk of HFM is related to maternal use of vasoactive medications in the first trimester, particularly in combination with cigarette smoking. Zielinski et al. in 2014 reported the largest family with HFM described in literature, and implicated OTX2 as the pathogenic gene in the copy number variant. There is a predilection for males (male:female ratio 3:2) and the right ear, with symptoms being usually unilateral and varying from mild to severe. Facial weakness and hearing loss are the most common functional defects. Around 86% of patients have conductive hearing loss; and 10–16% a sensorineural hearing loss (incidence in other craniofacial syndromes is 3–4%).
Differential diagnoses include Branchio-oto-renal syndrome, Branchio-oculo-facial syndrome, and Mandibulo-Facial Dysostosis (Treacher-Collins syndrome). The OMENS score classification takes into account five major features (orbital distortion, mandibular hypoplasia, ear anomaly, nerve involvement, and soft tissue deficiency). HFM can be associated with cardiac and renal defects, skeletal anomalies, and developmental delays. Thin cut multislice CT is the imaging modality of choice for the evaluation of the temporal bone.
A series of three cases of HFM in 2013 showed diverse clinical and radiographic features including facial paralysis. Two patients had malformed and small pinna (respectively) with normal hearing and one had rudimentary pinna with meatal atresia, pre-auricular skin tags, and hearing loss. Ullal et al. reported a 12-year-old boy with left-sided preauricular skin tags and atretic external auditory canal and middle ear with ipsilateral conductive hearing loss. Rare presentations include the association of HFM with pulmonary hypoplasia.
Our patient had the unusual finding of bilateral Mondini dysplasia which to the best of our knowledge has not been previously reported in a case of HFM. The classic Mondini inner ear dysplasia is described as a cochlea of one-and-one-half turns, comprising a normal basal turn and a cystic apex; an enlarged vestibule with normal semicircular canals; and an enlarged vestibular aqueduct containing a dilated endolymphatic sac. It is associated with the following syndromes: Pendred; coloboma, heart anomalies, choanal atresia, retardation of growth, genital, and ear anomalies (CHARGE); Klippel-Feil; DiGeorge, and Wildervanck. The large vestibular aqueduct syndrome is often associated with a Mondini dysplasia but was not present in our patient.
The clinical manifestations of HFM comprise a broad and complex spectrum that necessitates multiple investigations and a multidisciplinary approach to management. The association of bilateral Mondini dysplasia of the inner ear with HFM is extremely rare and it may be missed if hearing acuity is not assessed. All cases of HFM need to undergo a hearing assessment to rule out associated inner ear anomalies.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]