Paper Title: Case Report-Treacher-Collins Syndrome

Authors: Okechukwu C.

Abstract/Summary:

Objectives:
To report a probable case of Treacher Collins syndrome, a rare genetic disease, to highlight the challenges in
management in a resource limited setting.

Methods:
This is the case report of GT, a 7 month old male, who presented with a history of abnormally formed ears since birth, noisy breathing and poor weight gain of 6 months duration and fever of 10days duration. He is the 5 of 5 children of a
young couple of low socio economic status. On examination, he was small for age and wasted. His weight was 4.1kg which is < -
4 of the WHO Z score for his length. He had an inspiratory stridor, intercostal and subcostal recessions. He had twisted
and malformed ears, oral malocclusion, glossoptosis, macrostomia and high arched palate. He was yet to develop primary teeth.
He was managed for Multiple congenital anomalies, Treacher Collins Syndrome with upper airway obstruction, and Failure to
thrive. He was seen by the Ortolaryngologist and the Maxillofacial surgeon but was unable to afford the treatment and care they
offered (audiological assessment, facial reconstructive surgery). Chromosomal studies could not be done due to financial
constraints. He received nutritional rehabilitation, antimalarials and antibiotics. He remained in the hospital 4 days post
discharge due to inability to pay the hospital fees. He has since then, not been seen at the follow up clinic.

Conclusion:
This case is being reported to highlight the importance a high index of suspicion and a knowledge of the typical
dysmorphic features found in this rare condition to inform the line of patient management in a setting such as ours where, due to
several confounding factors, arriving at a definitive diagnosis may be elusive.

Publication Date:
2018-06-30

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