Affiliation:
1. Universidade de São Paulo, Brazil
2. FMUSP, Brazil
Abstract
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.
Reference27 articles.
1. Oculo-auriculo-vertebral dysplasia: presentation of a case and attempt at organizing the symptomatology;Salvitti C;Rev Ass Med Bras,1978
2. Syndromes of the head and neck;Gorlin RL,2001
3. The oculoauriculovertebral dysplasia syndrome of Goldenhar;Sugar HS;Am J Ophthalmol,1966
4. The first and second branchial arch syndrome;Grabb WC;Plast Reconstr Surg,1965
5. Discordance for skeletal and cardiac defect in monozygotic twins;Stoll C;Acta Genet Med Gemellol,1984
Cited by
10 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献