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

SUMMARY 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.

Bibliographic Details

Main Authors:	Pegler,José Roberto Mendes, Soares,Diogo Cordeiro de Queiroz, Quaio,Caio Robledo D’Angioli Costa, Fernandes,Natalia, Oliveira,Luiz Antonio Nunes de, Honjo,Rachel Sayuri, Bertola,Debora Romeo, Kim,Chong Ae
Format:	Digital revista
Language:	English
Published:	Associação Médica Brasileira 2016
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302016000300202
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