Research facial dysostosis

Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.

Plomp RG, van Lieshout MJ, Joosten KF, Wolvius EB, van der Schroeff MP, Versnel SL, Poublon RM, Mathijssen IM.

Plast Reconstr Surg. 2016 Jan;137(1):191-204.

In this systematic review, 63 papers out of 2433 papers were included. Based on these studies, recommendations for care are provided regarding breathing and feeding, hearing and speech, vision and related ophthalmologic functions, craniofacial reconstructions and psychosocial functioning.


Long-term assessment of facial features and functions needing more attention in treatment of Treacher Collins syndrome.

Plomp RG, Versnel SL, van Lieshout MJ, Poublon RM, Mathijssen IM.

J Plast Reconstr Aesthet Surg. 2013 Aug;66(8):e217-26.

Twenty-three adults with Treacher Collins syndrome were asked to score their satisfaction with their face. They were least satisfied with the appearance of the ears, facial profile and eyelids, hearing and nasal patency.They reported a desire for further improvement of the eyelids and hearing.


Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.

Goos JAC, Swagemakers SMA, Twigg SRF, van Dooren MF, Hoogeboom AJM, Beetz C, Günther S, Magielsen FJ, Ockeloen CW, A Ramos-Arroyo M, Pfundt R, Yntema HG, van der Spek PJ, Stanier P, Wieczorek D, Wilkie AOM, van den Ouweland AMW, Mathijssen IMJ, Hurst JA.

Eur J Hum Genet. 2017 Oct;25(10):1126-1133.

Burn-McKeown syndrome is one of the facial dysostosis, characterized by choanal atresia, prominent ears, abnormalities of the outer third of the lower eyelid, cardiac abnormalities, hearing loss, and cleft lip. This paper describes two patients with Burn-McKeown who have changes in the TXNL4A gene that cause this syndrome, while three individuals with changes in TXNL4A are presented that only have choanal atresia.