Thayse Bienert Goetze

Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)

UNLABELLED Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized by the involvement of the first branchial arches. PURPOSE To investigate the ear abnormalities of a sample of patients with OAVS. MATERIALS AND METHODS The sample consisted of 12 patients with OAVS seen at the Clinical Genetics Unit, UFCSPA/CHSCPA. The study included only patients who underwent mastoid computed tomography and with normal karyotype. We performed a review of its clinical features, giving emphasis to the ear findings. RESULTS Nine patients were male, the ages ranged from 1 day to 17 years. Ear abnormalities were observed in all patients and involved the external (n = 12), middle (n = 10) and inner ear (n = 3). Microtia was the most frequent finding (n = 12). The most common abnormalities of the middle ear were: opacification (n = 2), displacement (n = 2) and malformation of the ossicular chain. Agenesis of the internal auditory canal (n = 2) was the most frequent alteration of the inner ear. CONCLUSIONS Ear abnormalities are variable in patients with OAVS and often there is no correlation between findings in the external, middle and inner ear. The evaluation of these structures is important in the management of individuals with OAVS.

Importance of a multidisciplinary approach and monitoring in fetal warfarin syndrome

Warfarin is a synthetic oral anticoagulant that crosses the placenta and can lead to a number of congenital abnormalities known as fetal warfarin syndrome. Our aim is to report on the follow‐up from birth to age 8 years of a patient with fetal warfarin syndrome. He presented significant respiratory dysfunction, as well as dental and speech and language complications. The patient was the second child of a mother who took warfarin during pregnancy due to a metallic heart valve. The patient had respiratory dysfunction at birth. On physical examination, he had a hypoplastic nose, pectus excavatum, and clubbing of the fingers. Nasal fibrobronchoscopy showed upper airway obstruction due to narrowing of the nasal cavities. He underwent surgical correction with Max Pereira graft, zetaplasty, and osteotomies for the piriform aperture. At dental evaluation, he had caries and delayed eruption of the upper incisors. Speech and language assessment revealed high palate, mouth breathing, little nasal patency, and shortened upper lip. Auditory long latency and cognitive‐related potential to auditory stimuli demonstrated functional changes in the cortical auditory pathways. We believe that the frequency of certain findings observed in our patient may be higher in fetal warfarin syndrome than is appreciated, since a significant number result in abortions, stillbirths, or children evaluated in the first year of life without a follow‐up. Thus, a multidisciplinary approach and long‐term monitoring of these patients may be necessary.

Audiological findings in patients with oculo-auriculo-vertebral spectrum.

Introduction Oculo-auriculo-vertebral spectrum, also referred to as Goldenhar syndrome, is a condition characterized by alterations involving the development of the structures of the first and second branchial arches. The abnormalities primarily affect the face, the eyes, the spine, and the ears, and the auricular abnormalities are associated with possible hearing loss. Objective To analyze the audiological findings of patients with oculo-auriculo-vertebral spectrum through liminal pure-tone audiometry and speech audiometry test. Methods Cross-sectional study conducted on 10 patients with oculo-auriculo-vertebral spectrum and clinical findings on at least two of the following areas: orocraniofacial, ocular, auricular, and vertebral. All patients underwent tonal and vocal hearing evaluations. Results Seven patients were male and three were female; all had ear abnormalities, and the right side was the most often affected. Conductive hearing loss was the most common (found in 10 ears), followed by sensorineural hearing loss (in five ears), with mixed hearing loss in only one ear. The impairment of the hearing loss ranged from mild to moderate, with one case of profound loss. Conclusions The results show a higher frequency of conductive hearing loss among individuals with the oculo-auriculo-vertebral spectrum phenotype, especially moderate loss affecting the right side. Furthermore, research in auditory thresholds in the oculo-auriculo-vertebral spectrum is important in speech therapy findings about the disease to facilitate early intervention for possible alterations.

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 patients 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.

Alterações estomatognáticas e de fala são comuns entre crianças com incontinência pigmentar

Purpose: To identify possible speech-language disorders in children with Incontinentia Pigmenti (IP), seeking to characterize the role of speech therapy in the evaluation and management of this genetic condition. Methods: The sample was composed of seven female children diagnosed with IP. Results: The patients in the sample had a mean age of 6.4 years. Among the main structural features verified in the patients, highlighted the presence of no physiological diastema and hard palate abnormalities, found both in 85.7 % of the sample, in addition to tooth agenesis in 71.4% of cases. As for functional findings, 71.4 % of the sample had abnormal tongue mobility and 57.1%, inappropriate chewing. As for changes in speech, the main findings consisted of phonetic/phonological alterations, verified in 85.7 % of the sample, being the most common phonetic alteration characterized by distortion of alveolar fricative [s], present in 57.1 % of cases. None of the children had abnormal voice and swallowing according to the used protocol. Furthermore, no detectable hearing abnormality was observed according to claim of the family or by observation during the evaluation. Conclusion: In this sample the most frequent speech-language alterations verified among the patients with IP were mainly related to the stomatognathic system structures and speech.