Treacher Collins Syndrome.

Affiliation

H.B. Williams Craniofacial and Cleft Surgery Unit, Montreal Children's Hospital, Division of Plastic and Reconstructive Surgery, McGill University Health Center, 1001 Decarie Boulevard, B05.3310, Montreal, Quebec H4A 3J1, Canada. Electronic address: [Email]

Abstract

Treacher Collins syndrome is a rare genetic disorder of craniofacial development with a highly variable phenotype. The disorder displays an intricate underlying dysmorphology. Affected patients may suffer life-threatening airway complications and functional difficulties involving sight, hearing, speech, and feeding. Deformation of facial structures produces a characteristic appearance that includes malar hypoplasia, periorbital soft tissue anomalies, maxillomandibular hypoplasia, and ear anomalies. Management requires a specialized craniofacial team, as comprehensive care starts at birth and may require life-long follow-up. Standard craniofacial procedures for bony and soft tissue reconstruction are used. This article outlines current treatment strategies and future concepts for surgical management.

Keywords

Congenital airway,Facial deformity,Franceschetti-Klein syndrome,Malar hypoplasia,Mandibular distraction,Mandibular hypoplasia,Microtia,Treacher Collins syndrome,

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