Page 112 - Portuguese Journal - SPORL - Vol 61. Nº1

Among the aural malformations described is essential to correctly assess the auditory
are the low-set ear, preauricular appendage or
fistula, hypoplastic lobe, prominent antihelix,
and EAC atresia . As we can see, most of the
1
aural anomalies found in literature are minor
1
malformations, and in our present case we
found, in addition to EAC atresia, alterations at
the level of the middle ear shown by CT.
It is common in CES to find a bisatelised
supernumerary chromosome derived from
chromosome 22 that causes duplication or
triplication of the proximal sequences of the
long arm of this chromosome (22q11). Interstitial
duplication of the 22q11 region has also been
described. On some occasions, and so it was in
our case, there is the presence of mosaicisms
of the supernumerary chromosome.
In the literature there is no consensus on
whether there is a correlation between
phenotypic severity and the degree of
mosaicism. Some authors postulate that there
is no such correlation , however, a recent
3
study favors its existence .
5
Cases tend to be sporadic although family
pattern has been described . Performing a
6
karyotype is the reference diagnostic test.
Fluorescence in situ hybridization (FISH)
techniques or a hybridization genomic array
can also be performed .
7
The comprehensive treatment discussed in
multidisciplinary committees is essential to
solve the different malformations present
in these patients . So it was in the case at
8
hand, it was decided to treat the anorectal
malformation first because it was the most
urgent, and then to study and treat the rest of
the malformations.
The prognosis tends to be favorable but
depends fundamentally on the presence
or absence of associated renal and cardiac
malformations . There are prenatal cases of
4
great severity whose prognosis depends on
cerebellar hypoplasia .
9
CES is rare but should be suspected in the
presence of associated anorectal, aural and
ocular malformations. The genetic study
by karyotyping is essential for diagnostic
confirmation while the audiological study
112 Portuguese Journal of Otorhinolaryngology - Head and Neck Surgery
involvement and to be able to carry out precise
and personalized therapeutic strategies.
Conflicts of Interest
The authors declare that there is no conflict
of interests regarding the publication of this
paper.
Data Confidentiality
The authors declare having followed the
protocols in use at their working center
regarding patients’ data publication.
Protection of humans and animals
The authors declare that the procedures
were followed according to the regulations
established by the Clinical Research and Ethics
Committee and to the 2013 Helsinki Declaration
of the World Medical Association.
Funding Sources
This work did not receive any contribution,
funding or scholarship.
Availability of scientific data
There are no datasets available, publicly related
to this work.
Bibliographic references
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GA. Clinical characteristics of a sample of patients with
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3.Knijnenburg J, van Bever Y, Hulsman LO, van Kempen
CA, Bolman GM, van Loon RL. et al. A 600 kb triplication
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ejhg.2012.43.
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10.1002/ajmg.a.35311.
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