Pediatric phoniatry outpatient ward: clinical and epidemiological characteristics.

Unlabelled: Children with language or learning impairment and normal hearing need phoniatric assessment to analyse various communication and development aspects targeting the differential diagnosis and therapeutic indications.

Objective: Characterize clinical and epidemiological features of a pediatric population treated in a phoniatric outpatient clinic.

Method: A cross-sectional historical cohort study (retrospective study) was performed involving 68 patients undergoing phoniatric consultation.

Chloral hydrate to study auditory brainstem response.

Unlabelled: Chloral Hydrate (CH) is a sedative and hypnotic drug used in pediatric procedures owing to the low depressive effect it has on the respiratory and cardiac systems.

Aim: To assess the efficacy of the drug in performing ABR and to systematize its use.

Materials And Methods: A prospective cross-sectional study with 41 children without history of heart or lung disease.

A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family.

Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries. We report here on a novel point mutation in GJB2, p.L76P (c.

Changes in click characteristics during ABR recording.

Unlabelled: Manipulation of auditory stimuli affect the ABR evoked potentials and aid the diagnosis, particularly in auditory neuropathy patients. Some patients with auditory neuropathy lose evoked otoacoustic emissions over time; in these cases, comparing responses to rarefaction and condensation clicks, and decreasing the stimulus rate can show an extended cochlear microphonism or yield an improved electric potential record.

Aim: To analyze the effect of these click manipulations on the records of potentials of patients with hearing loss as a form of improving the diagnosis.

Laryngeal malformations in the Richieri-Costa and Pereira form of acrofacial dysostosis.

We report on laryngeal malformations in 5 subjects, 4 females and 1 male, with the autosomal-recessive Richieri-Costa and Pereira form of acrofacial dysostosis. Characteristics of the voice are described.

Velocardiofacial syndrome with facial and pinna asymmetries.

This study reports some of the most important clinical features of the velocardiofacial syndrome (hypoplastic zygomatic arch, prominent nose with square nasal root, bilateral epicanthus, downslanting palpebral fissures, and learning disabilities) in a Brazilian boy presenting face and pinna asymmetries. These findings may facilitate the diagnosis of this syndrome.