RAMB - Maio / Junho 2016

linical

description

41 B

razilian

patients

with

oculo

auriculo

vertebral

dysplasia

ssoc

ras

2016; 62(3):202-206

203

the abuse of alcohol during pregnancy as well.

13-15

Mou-

noud et al. reported a case of OAV dysplasia in a child whose

mother had a history of hypervitaminosis A. It is known

that daily doses of vitamin A higher than 25,000 IU have

teratogenic effects. This teratogen has harmful effects in

the formation of neural crest cells, which are essential for

the formation of the pharyngeal arches.

16,17

Affected individuals may present: malar and/or man-

dibular hypoplasia, hypoplasia of the facial muscles, mi-

crotia, preauricular tags and outer ear dysplasia, hemi-

vertebrae and hypoplasia of cervical thoracic or lumbar

vertebrae, epibulbar dermoids, microphthalmia, cleft pal-

ate and/or lip, cardiac, kidney or central nervous system

(CNS) anomalies.

In addition, there are reports on the

association of OAV dysplasia with other conditions, such

as genitourinary,

18,19

cardiovascular,

14,20

or psychiatric

21,22

changes, and obstructive sleep apnea.

However, due to

clinical variability, some patients have minimal manifes-

tations, predominantly facial asymmetry and dysplasia

of the auricular pavilion.

Based on the above, and considering the importance

of the topic due to prevalence, wide spectrum of clinical

manifestations and the lack of studies that describe a sig-

nificant number of patients suffering from OAV dyspla-

sia in our midst, we describe a case series of patients di-

agnosed with OAV dysplasia followed in our service over

the past 20 years.

ethod

The sample consisted of individuals followed in the Med-

ical Genetics Unit at Instituto da Criança, Hospital das

Clínicas, Faculdade de Medicina da Universidade de São

Paulo (ICr-HC-FMUSP), diagnosed with OAV dysplasia

from 1990 to 2010. This study was approved by the Eth-

ics Committee for Research Project Analysis – CAPPesq

of HC-FMUSP (No. 0667-07).

Patients included in the study were those with nor-

mal G-banding karyotype and involvement of at least two

of the following sites: 1) mouth, skull and face, 2) eyes, 3)

ears and 4) vertebrae. This approach was consistent with

that adopted by Strömland et al. (2007).

Individuals

with chromosomal abnormalities or incomplete medical

records were excluded from the study.

We conducted a retrospective analysis, and collected

data on clinical manifestations (ear, face, spine, eyes and

more), demographics (gender, date of birth, age at first

consultation, and age of parents) and results of addition-

al tests. The affected side (right, left or bilateral) was that

where microtia or facial microsomia was located, similar-

ly to the method adopted by Rollnick et al. (1987).

esults

Among the 41 patients studied, 19 (46.3%) were male and

22 (53.7%) female. The mean age at first consultation was

2 years and 10 months (34.4±48.8 months). The mean

age of parents at the birth of the child in cases where in-

formation was available (39/41 patients) was 28.5±6.9

years for the mothers and 31.4±7.4 years for the fathers.

With regard to clinical manifestations, 97.5% of the pa-

tients had some degree of ear involvement, 90.2% facial,

65.9% vertebral, and 53.7% ocular. 89% of children had in-

volvement of other organs. The classic OAV triad was pres-

ent in only 34% (15 children). All patients except one had

concomitant problems in other organs or systems.

Facial manifestations

Facial abnormalities were observed in 90.2% (37/41) of

patients. Of these, 83.8% (31/37) had some degree of hemi-

facial microsomia. In 46% (17/37) of the cases, change in

facial expression was observed, suggesting some degree

of facial paralysis. We also found that 14% (6/37) of the

cases had cleft palate and/or lip and 7% (3/37) had ocu-

lar hypertelorism.

Ocular manifestations

From the classic triad of changes described as OAV dys-

plasia, ocular changes were less frequent in our series,

with about 53.7% (22/41) of patients presenting some in-

volvement. Epibulbar dermoids or dermoid cysts were

seen in 45.4% (10/22), representing the vast majority in

the group of eye diseases, followed by the finding of epi-

canthus, present in 22.7% (5/22) and other epibulbar tu-

mors, present in 13.6% (3/22). Other ocular manifesta-

tions found in our series at a lower prevalence (1 or 2

cases) are: coloboma, changes in the lacrimal gland, an-

ophthalmia and amaurosis.

Auricular manifestations

In terms of location, 30% (12/40) of patients had involve-

ment limited to the right side, 30% (12/40) had abnormal-

ities only in the left side, and 40% (16/40) were affected bi-

laterally. The most commonly found malformation was

that of auricular dysplasia to varying degrees in 73% (30/41).

The presence of preauricular tags occurred in 51.2% (21/41)

of cases. In 24.4% (10/41) of patients, these two manifes-

tations were simultaneous. In 31.7% (13/41) of cases, some

degree of functional hearing loss was reported. Other chang-

es described, by order of prevalence, are: auditory canal ste-

nosis in 14.6% (6/41), auditory canal agenesis in 12.2%

(5/41), abnormal implantation of the pinna in 9.8% (4/41),

and recurrent acute otitis media in 7.3% (3/41).