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Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia
José Roberto Mendes Pegler1, Diogo Cordeiro de Queiroz Soares2, Caio Robledo D'Angioli Costa Quaio3
1Universidade de São Paulo, Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, São Paulo SP , Brazil, MD - Pediatric Resident Physician, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (ICr-HC-FMUSP), São Paulo, SP, Brazil.
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.
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