SciELO - Scientific Electronic Library Online

 
vol.62 issue3Scleredema of Buschke associated with difficult-to-control type 2 diabetes mellitusCancer patients, emergencies service and provision of palliative care author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

Related links

Share


Revista da Associação Médica Brasileira

Print version ISSN 0104-4230On-line version ISSN 1806-9282

Abstract

PEGLER, José Roberto Mendes et al. Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia. Rev. Assoc. Med. Bras. [online]. 2016, vol.62, n.3, pp.202-206. ISSN 0104-4230.  http://dx.doi.org/10.1590/1806-9282.62.03.202.

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 female proportion was 53.7%. Mean maternal age at patient’s birth was 28.5y (min: 17, max: 46y) for mothers and 31.4y (min: 21, max: 51y) for fathers. Most patients (97.5%) had auricular involvement, with facial manifestation in 90.2%, spinal in 65.9%, ocular in 53.7%, 36.6% with cardiovascular involvement, 29.3% urogenital, and 17% of the cases with central nervous system (CNS) involvement. The classic OAV triad was present in only 34%. All patients except one had concomitant problems in other organs or systems.

Conclusion:

Since the diagnosis of OAV dysplasia relies only on a comprehensive medical evaluation, it is imperative that clinicians be aware of the most common presentation of the syndrome. Once suspected, every patient should undergo a complete medical evaluation of multiple systems including complementary exams. Treatment of these patients is based on surgical correction of malformations and rehabilitation.

Keywords : Goldenhar syndrome; facial asymmetry; craniofacial abnormalities.

        · abstract in Portuguese     · text in English     · English ( pdf )