Treacher Collins Syndrome - 08/03/19

Résumé |
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.
Le texte complet de cet article est disponible en PDF.Keywords : Treacher Collins syndrome, Franceschetti-Klein syndrome, Malar hypoplasia, Mandibular hypoplasia, Mandibular distraction, Congenital airway, Facial deformity, Microtia
Plan
| Disclosure Statement: The authors have nothing to disclose. |
Vol 46 - N° 2
P. 197-205 - avril 2019 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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