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P
egler
JRM
et
al
.
202
R
ev
A
ssoc
M
ed
B
ras
2016; 62(3):202-206
ORIGINAL ARTICLE
Clinical description of 41 Brazilian patients with oculo-auriculo-
-vertebral dysplasia
J
osé
R
oberto
M
endes
P
egler
¹
, D
iogo
C
ordeiro
de
Q
ueiroz
S
oares
²
*, C
aio
R
obledo
D’A
ngioli
C
osta
Q
uaio
³
,
N
atalia
F
ernandes
4
, L
uiz
A
ntonio
N
unes
de
O
liveira
5
, R
achel
S
ayuri
H
onjo
6
, D
ebora
R
omeo
B
ertola
7
, C
hong
A
e
K
im
8
1
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
2
MD – Specialist in Medical Genetics and PhD candidate from FMUSP. Preceptor, Medical Genetics Unit, ICr-HC-FMUSP, São Paulo, SP, Brazil
3
Specialist in Medical Genetics – Collaborating Physician at the Medical Genetics Unit, ICr-HC-FMUSP, São Paulo, SP, Brazil
4
Biomedical Student – Intern in the Medical Genetics Unit, ICr-HC-FMUSP, São Paulo, SP, Brazil
5
Radiologist – Assistent Physician, Radiology Service, ICr-HC-FMUSP, São Paulo, SP, Brazil
6
PhD in Medicine from FMUSP – Assistant Physician, Medical Genetics Unit, ICr-HC-FMUSP, São Paulo, SP, Brazil
7
PhD in Medicine from FMUSP – Head of the Medical Genetics Unit, ICr-HC-FMUSP, São Paulo, SP, Brazil
8
PhD in Medicine from FMUSP. Associate Professor, Department of Pediatrics, FMUSP, São Paulo, SP, Brazil
S
ummary
Study conducted at Unidade de
Genética Médica, Instituto da Criança
do Hospital das Clínicas da Faculdade de
Medicina da Universidade de São Paulo
(ICr-HC-FMUSP), São Paulo, SP, Brazil
Article received:
8/6/2014
Accepted for publication:
8/24/2014
*Correspondence:
Address: Av. Enéas de Carvalho Aguiar, 647,
7º andar
Cerqueira César
São Paulo, SP – Brazil
Postal code: 05403-000
diogo.soares@hc.fm.usp.br http://dx.doi.org/10.1590/1806-9282.62.03.202Objective:
To describe the most prominent clinical features of a cohort of pa-
tients 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 mater-
nal 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 cardio-
vascular 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 pa-
tients except one had concomitant problems in other organs or systems.
Conclusion:
Since the diagnosis of OAV dysplasia relies only on a comprehen-
sive medical evaluation, it is imperative that clinicians be aware of the most com-
mon presentation of the syndrome. Once suspected, every patient should under-
go a complete medical evaluation of multiple systems including complementary
exams. Treatment of these patients is based on surgical correction of malforma-
tions and rehabilitation.
Keywords:
Goldenhar syndrome, facial asymmetry, craniofacial abnormalities.
I
ntroduction
The Goldenhar syndrome was described in 1845 by Carl
Ferdinand von Arlt and recognized as a clinical entity in
1952 by Maurice Goldenhar who described it in a child,
as reported Salvitti et al.
1
It has been known as first bran-
chial arch syndrome, Gorlin’s syndrome and hemifacial
microsomia (OMIM 164210), but currently it is best
known as oculo-auriculo-vertebral (OAV) dysplasia, a no-
menclature given by Gorlin et al.
2
and Sugar.
3
Its prevalence has been estimated at about one case per
5,600 to 26,550 births,
4-6
with greater involvement of males
than females (in a ratio of about 3:2).
7
The cases are most-
ly sporadic, but families with autosomal recessive or auto-
somal dominant inheritance have been described;
8,9
thus,
the hypothesis that there is no kind of genetic factor in-
volved that would influence susceptibility to the disease
has been ruled out.
10
In this regard, reports of monozygot-
ic twins,
11
both dichorionic and monochorionic,
12
discor-
dant for the disease have been made, suggesting a correla-
tion with a multifactorial inheritance pattern.
Moreover, there is evidence in the literature indicating
that ingestion of certain drugs, such as thalidomide, reti-
noic acid, tamoxifen and cocaine during pregnancy can be
related to the development of this condition. Other factors
have been suggested as etiological factors include maternal
diabetes, viral infections (e.g. rubella and influenza) and