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Treacher Collins Syndrome: Present concepts of the disorder and their surgical correction

Abstract

Treacher Collins Syndrome is a rare bilateral congenital deformity occurring in 1 in 10,000 births. It is also known, in the European literature, as Franceschetti Syndrome, and is additionally known as mandibulofacial dysostosis. It is a syndrome with a very wide spectrum of manifestations characterized by distortions of the orbit secondary to hypoplasia of the maxilla, mandible, and, most markedly, of the zygoma. Soft tissue deformities include lower lid colobomas, laxity and dystopia of the lateral canthus, microtia, and a paucity of the muscular aponeurosis of the midface. The syndrome is frequently accompanied by significant hearing loss, early failure to thrive, chronic respiratory insufficiency, and sleep apnea. Intelligence is usually within normal limits although learning disabilities are common in early life. These major anatomical and physiological abnormalities, as well as the psychological and social stigma associated with severe facial deformity, make this syndrome one of the most challenging reconstructive problems presented to the craniofacial surgeon.

Résumé

Le syndrome de Treacher Collins est une malformation bilatérale congénitale rare: 1/10,000 naissances. Dans la littérature européenne, on l'appelle aussi syndrome de Franceschetti ou dysostose mandibulofaciale. Ses manifestations varient et se caractérisent par des modifications morphologiques de l'orbite secondaires à une hypoplasie du maxillaire supérieur, de la mandibule, et surtout du zygoma. Les malformations des parties molles comprennent: colobomes de la paupière inférieure, laxité et dystopie du canthus externe, microtie et insuffisance de l'aponévrose musculaire faciale. On constate souvent une importante baisse d'audition, l'impossibilité de prendre du poids, de l'insuffisance respiratoire chronique, et des apnées du sommeil. En général, l'intelligence reste dans les limites de la normale mais des inaptitudes d'apprentissage se constatent fréquemment dès les premiers jours de la vie. Ces anomalies anatomiques et physiologiques majeures jointes aux stigmates psychologiques et sociales qui accompagnent la malformation faciale posent un des plus graves problèmes de la chirurgie reconstructrice ou chirurgie craniofaciale.

Resumen

El síndrome de Treacher Collins es una rara malformación congénita bilateral que ocurre en 1 de cada 10,000 nacimientos. Son sinónimos el Síndrome de Franceschetti, en la literatura europea, y la disostosis mandibulofacial. Es un si'ndrome con un amplio espectro de manifestaciones, caracterizado por distorsiones de la órbita secundarias a hipoplasia del maxilar, de la mandibula, y, lo más prominente, del zigoma. Las deformaciones de los tejidos blandos incluyen colobomas del párpado inferior, laxitud y distopia del canto lateral, microcia, y deficiencias de la aponeurosis de la porción media de la cara. El síndrome frecuentemente se acompaña de significativa pérdida de la audición, falla temprana en el desarrollo corporal, insuficiencia respiratoria crónica, y apnea del sueño. La inteligencia aparece generalmente dentro de limites normales, aunque son comunes las deficiencias en el proceso de aprendizaje en la edad temprana. Tales anomalías anatómicas y fisiológicas, junto con el estigma social que representa la severa deformidad facial, hacen de este síndrome uno de los desafíos quirÚrgicos de reconstrucción más importantes que se presentan al cirujano craneofacial.

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Correspondence to Louis C. Argenta M.D..

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Argenta, L.C., Iacobucci, J.J. Treacher Collins Syndrome: Present concepts of the disorder and their surgical correction. World J. Surg. 13, 401–409 (1989). https://doi.org/10.1007/BF01660753

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Keywords

  • Sleep Apnea
  • Colobomas
  • Congenital Deformity
  • Dysostosis
  • Facial Deformity