Gastrointestinal Malformations in Patients with
Treacher Collins Syndrome: A Systematic Review
Busara Charoenwat MD1, Piyathida Wongmast MD1, Watuhatai Paibool MD1,
Manat Panamonta MD1, Ouyporn Panamonta MD1, Khunton Wichajarn MD1
Affiliation :
1 Department of Pediatrics, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand
This paper was presented at the 8th European Paediatric Gastrointestinal Motility Meeting,
22 to 24 March, 2018, London, UK
Background : Gastrointestinal [GI] malformation is an uncommon extra-craniofacial manifestation in a patient with Treacher
Collins syndrome [TCS], however, a systematic review of this presentation is lacking.
Objective : Our aim was to systematically review the prevalence and type of GI malformations in patients with TCS.
Materials and Methods : A systematic literature search was conducted for articles published on “Treacher Collins syndrome”
between 1996 and March 2018 using PubMed, Google scholar, Cochrane central data bases, and OMIM.
Results : Of the 15 studies included, we found 159 patients who had a clinical diagnosis of TCS; 144 (91%) of whom had
documented gene mutations [i.e., TCOF1 (114 patients), POLR1C (3 patients), or POLR1D (27 patients)]. Of the 144
patients who had been documented gene mutations, 2 (1.4%) patients had GI malformations; both of which had only the
TCOF1 gene mutation. The types of GI malformations included chronic intestinal pseudo-obstruction [CIPO] (1 case) and
esophageal regurgitation (1 case).
Conclusion : A GI malformation is an uncommon clinical presentation in a patient with TCS but this type of malformation
should be looked for and managed during a craniofacial care.
Keywords : Treacher Collins syndrome, Treacher Collins-Franceschetti syndrome, Gastrointestinal malformations, Frequency,
Type, TCOF1, POLR1C, POLR1D, Gene
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