RAMB - Maio / Junho 2016

egler

JRM

204

ssoc

ras

2016; 62(3):202-206

Vertebral manifestations

65.9% (27/41) of the patients had vertebral abnormali-

ties. Of these, spinal axis changes were found most of-

ten including marked kyphosis and/or scoliosis in 48.2%

(13/27) of cases. Localized vertebral involvements were

also prevalent, including the finding of hemivertebrae

in 37% (10/27) cases, most often in the thoracic segment

with 25% (7/27) patients affected. Block or fused verte-

brae were diagnosed in 33% (9/27) of cases, with greater

involvement of the cervical spine, affected in 77.7% (7/9)

of patients, as well as the presence of incomplete fusion

of vertebral arches in 14.8% (4/27) of the patients. Oth-

er reports included: sacral dimples in 22% (6/27) of pa-

tients, spina bifida in 14.8% (4/27), and transitional ver-

tebrae in 14.8% (4/27).

Other systemic manifestations

Cardiovascular system

Cardiovascular involvement was found in 36.6% (15/41)

of the patients. The spectrum is quite heterogeneous, but

the most frequent changes were communications between

heart chambers, which were present in 36.6% of the pa-

tients with cardiac involvement. Interatrial communica-

tion was responsible for 40% (6/15) of the cases, and ven-

tricular septal defects for 33.3% (5/15) of the cases. Complex

congenital heart disease were seen in 26.7% (4/15) patients,

the most common being the tetralogy of Fallot, present in

50% (2/4) of cases. Persistent arterial duct was found in

20% (3/15) of the patients.

Urogenital system

In our sample, 29.3% (12/41) of patients showed abnor-

malities in the urinary tract, of which 41.7% (5/12) had

concomitant change in the cardiovascular system. Among

the abnormalities found, pelvic kidneys and unilateral

renal agenesis were the most prevalent occurrences, both

present in 41.7% (5/12) patients each. Of note, among

patients diagnosed with pelvic kidney, 80% (4/5) had ip-

silateral ear involvement. Other changes less frequently

observed (1 or 2 cases) were pyelocaliceal ectasia, pyelo-

ureteral duplication, vesicoureteral reflux and hypospa-

dias.

Central nervous system

17% (7/41) of the patients had CNS changes, especially

expansion of the cerebral ventricles, found in 43% (03/07)

of cases. 28.6% (2/7) of these cases had dysgenesis of the

corpus callosum

associated with ventriculomegaly, and

14.3% (1/7) showed absence of the septum pellucidum as-

sociated with ventriculomegaly. Occipital encephalocele

associated with posterior parietal meningoencephalocele

was less frequent alteration found in one patient.

iscussion

OAV dysplasia is a well-defined entity, characterized by

unilateral or bilateral craniofacial anomalies, to a variable

degree, involving the first and second branchial arches,

and vertebral and eye abnormalities. Clinically, it varies

from an isolated microtia, with or without mandibular

hypoplasia, to a more complex phenotype involving skel-

etal, cardiac, renal, lung and CNS disorders.

24,25

As previously mentioned, much has been speculated

about the etiological and pathogenic mechanisms that

lead to the development of OAV dysplasia. In this sense,

several studies have been performed to identify genetic

changes that may be related to the phenotype displayed

by patients with OAV, but so far such correlation could

not be established.

Our results reveal that 21 (48%) patients were male and

23 (52%) were female, a proportion similar to that found

in a study conducted in the city of Bauru, state of São Pau-

lo,

and different from that observed in other studies that

found male predominance with a ratio of 3:2.

Regarding the therapeutic approach, in less complex

cases interventions vary according to the age and system-

ic involvement and are mainly intended to improve esthet-

ics. In patients with mandibular hypoplasia, reconstruc-

tive surgery can be performed using bone grafts taken from

the ribs and, in some instances, bone stretching. In cases

where there is cleft lip and/or palate, surgical correction is

usually performed followed by the use of orthodontic de-

vices after correction of mandibular defects.

Reconstructive surgery to correct auricular malfor-

mation is usually performed at the age of 6 to 8 years. In

patients with milder involvement, mandibular reconstruc-

tion surgery can be performed in early adolescence. Epi-

bulbar dermoids must be removed surgically. Structural

ocular anomalies and those of the outer ear should be

corrected by plastic surgeons.

onclusion

It is important to emphasize that individuals with OAV

dysplasia often have psychosocial difficulties caused by

stigma. Thus, the participation of a multidisciplinary

team is crucial so that patients can be addressed global-

ly for proper support. In general, the prognosis is good,

especially in cases without systemic involvement. More

severe cases of OAV dysplasia can affect many aspects of

a patient’s life, and many require interventions shortly

after birth.

2,14