Page 27 - Plasticos-Vol-3
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V O L 3 2019 I S S U E
CONCISE REVIEW- DECODING TREACHER COLLINS SYNDROME
Treacher-Collins syndrome (TCS), also Fortunately, the facial abnormalities in TCS are
known as Franceschetti–Klein syndrome and mostly non-progressive, therefore, the severity
mandibulofacial dysostosis, is a condition of the syndrome remains quite steady from
that affects the development of bones and childhood to adulthood.
other tissues of the face. This condition is not
common as it occurs in approximately 1 per Treatment
50,000 live births. Treacher-Collins Syndrome is
mostly caused by a change in a gene (mutation) Treatment has been directed toward correction
at around 5th to 6th week of gestation without of the above abnormalities by coordinating
anyone else in the family previously affected. effort of a team of specialists. However research
Geneticists can now determine whether the has been shifted to finding out more about the
Treacher Collins gene is a new mutation or one mechanisms of TCS so that, in the future, we
that has been passed on. The mutation leads would be able to prevent this syndrome from
to the abnormal development of the first and happening or to treat the patient prenatally.
second branchial arches which affects facial
development especially the cheek bones, lower
jaw, middle and outer ears. The patient can, Treatment for emergent/
however, inherit this disease to his/her children urgent and hidden
in the future.
problems
Diagnosis
This syndrome not only has abnormal facial
The major characteristic features of TCS include appearance but also serious problems that
identical deformity of both sides of the face could be hidden or require urgent care
and ears at birth. These affected parts derive especially during the neonatal or infancy
from specific embryonic structures (first and period.
second branchial arches). Facial appearance of
these patients is so typical that diagnosis can Hearing impairment
be made by just looking at the face.
Most patients with TCS have hearing loss due
• Small malars to abnormalities of the outer and middle ear,
• Forward temporal hairline and sideburn which conduct sound to the hearing nerve. Early
• Very small jaw and chin hearing aid is necessary in giving the patient
• Unusually wide mouth caused by clefts at access to sound in order to maintain normal
the corner of the mouth language development. The earlier the hearing
• Abnormalities of the ear aid is applied, the better chance the infant will
- Underdeveloped, malformed and/or accept and wear it. Proper hearing assessment
prominent ear is therefore to be performed as soon as possible
- Hearing impairment due to problems of after birth. And because hearing aid devices
outer and middle ear structures are quite expensive, parents should help their
- Preauricular skin tags child to take care of the device properly.
• Abnormalities of the eye
- Downslanting eyes
- Absence of some part of the lower eyelids
and eyelashes
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