ObjectiveTo summarize the progress of diagnosis and treatment of upper respiratory obstruction in patients with Treacher Collins syndrome (TCS).MethodsThe domestic and abroad literature about the diagnosis and treatment of upper respiratory obstruction in patients with TCS was extensively reviewed and analyzed.ResultsTCS is an autosomal-dominant craniofacial developmental syndrome. It is often accompanied by midface and/or mandibular hypoplasia, soft tissue hypertrophy, and other respiratory tissue developmental abnormalities, which can lead to different degrees of upper respiratory obstruction symptoms. Respiratory obstruction in patients with TCS is affected by many factors, and the obstructive degree are different. Early detection of the causes and obstructive sites and adopted targeted treatments can relieve the symptoms of respiratory obstruction and avoid severe complications.ConclusionDue to the low incidence of TCS, there is still a lack of high-quality research evidence to guide clinical treatment. Large-scale and prospective clinical studies are needed to provide new ideas for the treatment and prevention of upper respiratory obstruction.
ObjectiveTo three-dimensionally calculate the craniofacial parameters of midface of patients with Treacher Collins syndrome (TCS) in China, in order to understand the changes in the spatial position relationship between the various anatomical structures of the midface.MethodsCT imaging data of TCS patients and age- and gender-matched normal populations between January 2013 and July 2020 was retrospectively analyzed. A total of 33 cases met the selection criteria for inclusion in the study, including 14 cases in the TCS group and 19 cases in the control group. ProPlan CMF 3.0 software was used to perform three-dimensional digital reconstruction of the craniofacial bone, measure the anatomical parameters of the midface, and analyze its morphological structure; at the same time perform three-dimensional digital reconstruction of the upper airway for morphological analysis (measure upper airway volume).ResultsCT images analysis revealed that all 14 patients with TCS presented the typical features with downward slanting of the palpebral fissures and different degrees of zygomatico-orbital complex dysplasia. Cephalometric and morphological analysis of the midface revealed that, multiple transverse diameters of the midface of TCS patients were significantly decreased when compared with the control group (P<0.05), such as the width of the maxillary base, the length of the maxillary complex, and some distances related to the nasal morphology; but the distance between bilateral orbitales increased in TCS group (P<0.05). Several anteroposterior distances in TCS group were decreased significantly when compared to control group and the distance between the skull base point and the posterior nasal spine was the most shortened (P<0.05). But there was no significant difference of the distance between nasion and anterior nasal spine, which represented anterior midface height, between groups (P>0.05). The skull base angle and SNB angle (the angle between the sella point-nose root point-inferior alveolar seat point) of the TCS group both decreased when compared with the control group (P<0.05), but there was no significant difference in SNA angle (the angle between the sella point-nose root point-upper alveolar seat point) between the two groups (P>0.05). The total volume of the upper airway was (24 621.07±8 476.63) mm3 in the TCS group, which was significantly lower than that of the control group [(32 864.21±13 148.74) mm3] (t=2.185, P=0.037).ConclusionThe transverse distances, anteroposterior distances, and multiple craniofacial angles measurement of TCS patients were significantly decreased when compared to the control group, presented with different degrees of zygomatico-orbital complex dysplasia, nasal and maxillary dysplasia, but there was no obvious restriction in face height development. Reduced internal diameters of the upper airway maybe responsible for the decreased upper airway volume of patients with TCS.