Jiménez RO, Moreno RAS, Juárez GSG, Arias VM

Language: Spanish
References: 14
Page: 219-225
PDF size: 219.79 Kb.

ABSTRACT

Background: Auriculo-condylar syndrome is a rare genetic disease that affects the first and second pharyngeal arches during embryonic development, causing a series of orofacial and auditory anomalies, among others. One of the notable findings in this disease is the auricular malformation known as question mark ear. Despite its rarity, early diagnosis is essential to provide appropriate care and improve patients’ quality of life.
Clinical case: A three-year-old female patient with auriculo-condylar syndrome, who showed a variety of clinical features, including malformations of the ears, jaw, palate, and other facial features. Furthermore, the absence of ossicular chain structures in the middle ear was observed, which is an extremely rare finding and has not been previously reported in the medical literature.
Conclusions: The proper diagnosis and management of patients with auriculo-condylar syndrome requires a multidisciplinary approach that includes hearing evaluation, speech therapy, reconstructive surgery, and other treatments based on the individual needs of each patient. The importance of considering possible recurrence in affected families and the need for thorough evaluation in similar cases is also highlighted. In this case report we emphasize the importance of including hearing evaluation in the study protocol of patients with auriculo-condylar syndrome, since middle ear malformations can be a cause of hearing loss and consequently of a language disorder in these patients. Furthermore, it highlights the need for comprehensive care to address the complex clinical manifestations of this rare disease.

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