Treacher Collins syndrome: protocol management from birth to maturity.

James T. Thompson*, Peter J. Anderson, David J. David

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

40 Citations (Scopus)

Abstract

BACKGROUND:: Management of patients with Treacher Collins syndrome is complicated and involves multiple disciplines working in concert to achieve a common outcome. This article reviews the experience at the Australian Craniofacial Unit and describes the protocol for management. METHODS:: Fifty patients were treated during the last 30 years. The records of these patients were reviewed to establish what interventions they required and how these fit into a protocol for management. RESULTS:: The protocol for management of Treacher Collins syndrome can be divided into 3 epochs. In the first epoch from birth to age 2, airway and feeding problems were the main focus. Four patients required tracheostomy. Of these, 1 died and the others received mandibular distraction. Hearing is evaluated and addressed early. Eleven patients (23%) required repair of a cleft palate. In the second epoch (aged 2-12 y), speech therapy is critical as is a focus on integrating into the education system. During this epoch, reconstruction of the upper face was performed either with bone grafts or with vascularized bone flaps. Both required repeat bone grafts later. In the third epoch (aged 13-18 y), orthognathic surgery was performed. Revision surgery and further bone grafting were performed again at around age 18. Patients reported being generally happy with their appearance and with few exceptions were able to complete education, gain employment, and feel socially accepted. CONCLUSIONS:: Management of patients with Treacher Collins syndrome should be through a multidisciplinary protocol to achieve good results while minimizing confusion and unnecessary surgery.

Original languageEnglish
Pages (from-to)2028-2035
Number of pages8
JournalThe Journal of craniofacial surgery
Volume20
Issue number6
Publication statusPublished - Nov 2009
Externally publishedYes

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