Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia

Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia.

OBJECTIVE To describe the most prominent clinical features of a cohort of patients with oculo-auriculo-vertebral (OAV) dysplasia in Brazil. METHOD A review of medical records of patients with diagnosis of OAV from 1990 to 2010 was performed in a medical genetics center. RESULTS 41 patients were included in the study. Their average age at diagnosis was 2y 10mo (34,4±48,8 months) and the fema...

Clinical aspects of oculo-auriculo-vertebral dysplasia.

Oculo-auriculo-vertebral (Goldenhar's) syndrome.

Goldenhar's syndrome (Goldenhar, I952) consists of epibulbar dermoids or lipodermoids, auricular appendages, pretragal blind fistulas, and vertebral anomalies. A number of other deformities associated with this condition have been summarized by Bowen, Collum, and Rees (I97I). Our case is presented because of the presence of an aberrant salivary gland in the nose. This complication has not been ...

[Oculo-auriculo-vertebral spectrum in patients with congenital heart defects].

BACKGROUND there have been few studies evaluating the frequency of oculo-auriculo-vertebral spectrum (OAVS) in patients with congenital heart defects (CHDs). OBJECTIVE to verify the frequency of OAVS in a sample of patients with major heart malformations. METHODS we evaluated a prospective cohort of patients with CHD admitted in a pediatric cardiac intensive care unit (ICU) in Brazil. The d...

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...