Functional and structural alterations of the craniofacial complex in the branchio-oculo-facial syndrome: case report

Abstract

Introduction: Branchio-Oculo-Facial Syndrome (BOFS) is a rare autosomal disease with variable expression, dependent on genetic mutations, whose phenotype is characterized by ocular, hearing and craniofacial alterations. Purpose: describe the clinical features, the functional and structural alterations in the craniofacial complex of a subject with branchio-oculo-facial syndrome. Method: A 13-year and 3-month-old girl, with moderately severe conductive bilateral hearing loss diagnosed with BOFS, presented: bilateral cleft lip and palate treated by labioplasty and palatoplasty, facial asymmetry, anterior maxillary fistula, transverse maxillary atresia, imperfect dentinogenesis, negative horizontal trespass, Angle Class I bilateral, anterior and lateral open bite on both sides, severe left superior midline deviation, eruption by vestibular of the superior canine on the left side, prolonged retention of the second inferior molar right deciduous, lower dental crowding, hypotonia and inadequate tongue positioning, absence of labial resting at rest, adapted swallowing, alteration in mobility of lips, cheeks and palate with nasal air exhaust in speech, characterizing velopharyngeal dysfunction. There are few publications of BOFS, given its rarity. Subjects with cleft lip and palate may present a wide variety of changes in the production of headphones. Patient presents deficient growth of the maxilla which, as reported in the literature, may alter the development of the middle third of the face with repercussion in dental occlusion, speech and nose shape. Conclusion: The functional and structural clinical alterations reported are the majority of the craniofacial complex, demonstrating the importance of otorhinolaryngology, speech therapy and orthodontics in the interdisciplinary therapy of patients with BOFS.