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.


METHODS
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.


CONCLUSIONS
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.
Universidade 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.
José Roberto Mendes
JR
Pegler
Universidade de São Paulo, FMUSP, ICr-HC, Medical Genetics Unit, São Paulo SP , Brazil, MD - Specialist in Medical Genetics and PhD candidate from FMUSP. Preceptor, Medical Genetics Unit, ICr-HC-FMUSP, São Paulo, SP, Brazil.
Diogo Cordeiro de Queiroz
DC
Soares
Universidade de São Paulo, FMUSP, ICr-HC, Medical Genetics Unit, São Paulo SP , Brazil, Specialist in Medical Genetics - Collaborating Physician at the Medical Genetics Unit, ICr-HC-FMUSP, São Paulo, SP, Brazil.
Caio Robledo D'Angioli Costa
CR
Quaio
Universidade de São Paulo, FMUSP, ICr-HC, Medical Genetics Unit, São Paulo SP , Brazil, Biomedical Student - Intern in the Medical Genetics Unit, ICr-HC-FMUSP, São Paulo, SP, Brazil.
Natalia
N
Fernandes
Universidade de São Paulo, FMUSP, ICr-HC, Radiology Service, São Paulo SP , Brazil, Radiologist - Assistent Physician, Radiology Service, ICr-HC-FMUSP, São Paulo, SP, Brazil.
Luiz Antonio Nunes de
LA
Oliveira
Universidade de São Paulo, FMUSP, ICr-HC, Medical Genetics Unit, São Paulo SP , Brazil, PhD in Medicine from FMUSP - Assistant Physician, Medical Genetics Unit, ICr-HC-FMUSP, São Paulo, SP, Brazil.
Rachel Sayuri
RS
Honjo
Universidade de São Paulo, FMUSP, ICr-HC, Medical Genetics Unit, São Paulo SP , Brazil, PhD in Medicine from FMUSP - Head of the Medical Genetics Unit, ICr-HC-FMUSP, São Paulo, SP, Brazil.
Debora Romeo
DR
Bertola
Universidade de São Paulo, FMUSP, Department of Pediatrics, São Paulo SP , Brazil, PhD in Medicine from FMUSP. Associate Professor, Department of Pediatrics, FMUSP, São Paulo, SP, Brazil.
Chong Ae
CA
Kim
D001938:Brazil / Q000453:epidemiology; D002675:Child, Preschool; D004423:Ear / Q000002:abnormalities; D005124:Eye Abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D006053:Goldenhar Syndrome / Q000453:epidemiology* / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008499:Medical Records; D012189:Retrospective Studies; D017678:Sex Distribution; D013131:Spine / Q000002:abnormalities