Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with possibly coloboma of the lateral part of lower eyelids, midface hypoplasia, micrognathia as well as sporadically cleft palate and choanal atresia or stenosis. TCS occurs in the general population at a frequency of 1 in 50,000 live births. Four subtypes of Treacher Collins syndrome exist. TCS can be caused by pathogenic variants in the TCOF1, POLR1D, POLR1C and POLR1B genes. Genetically, the TCOF1 gene contains 27 exons which encodes the Treacle protein. In TCOF1, over 200 pathogenic variants have been identified, of which most are deletions leading to a frame-shift, that result in the formation of a termination codon. In the presented article, we review the genetics and phenotype of TCS as well as the management and surgical procedures utilized for treatment.

Treatment of temporomandibular ankylosis is challenging and frequently leads to re-ankylosis, relapse, dangerous complications and, in turn, the need for multiple operations. In this article, we present a protocol for the treatment of ankylosis of the temporomandibular joints that assumes earlier intervention with the assistance of 3D virtual surgical planning (3DVSP) and custom biomaterials for better and safer surgical outcomes. Thirty-three patients were treated due to either uni- or bilateral temporomandibular ankylosis. Twenty individuals received temporomandibular prosthesis, whereas seventeen required simultaneous 3D virtual surgical/planned orthognathic surgery as the final correction of the malocclusion. All patients exhibited statistically significant improvements in mouth opening (from 1.21 ± 0.74 cm to 3.77 ± 0.46 cm) and increased physiological functioning of the mandible. Gap arthroplasty and aggressive rehabilitation prior to temporomandibular prosthesis (TMJP) placement were preferred over costochondral autografts. The use of 3DVSP and custom biomaterials enables more precise, efficient and safe procedures to be performed in the paediatric and adolescent population requiring treatment for temporomandibular ankylosis.

The aim of our study was to evaluate orbital volume modification with LeFort III midface distraction in patients with craniosynostosis and its influence on eyeball volume and axial diameter modification. Orbital volume was assessed by the semiautomatic segmentation method based on deformable surface models and on 3-dimensional (3D) interaction with haptics. The eyeball volumes and diameters were automatically calculated after manual segmentation of computed tomographic scans with 3D slicer software. The mean, minimal, and maximal differences as well as the standard deviation and intraclass correlation coefficient (ICC) for intraobserver and interobserver measurements reliability were calculated. The Wilcoxon signed rank test was used to compare measured values before and after surgery. P < 0.05 was considered statistically significant. Intraobserver and interobserver ICC for haptic-aided semiautomatic orbital volume measurements were 0.98 and 0.99, respectively. The intraobserver and interobserver ICC values for manual segmentation of the eyeball volume were 0.87 and 0.86, respectively. The orbital volume increased significantly after surgery: 30.32% (mean, 5.96 mL) for the left orbit and 31.04% (mean, 6.31 mL) for the right orbit. The mean increase in eyeball volume was 12.3%. The mean increases in the eyeball axial dimensions were 7.3%, 9.3%, and 4.4% for the X-, Y-, and Z-axes, respectively. The Wilcoxon signed rank test showed that preoperative and postoperative eyeball volumes, as well as the diameters along the X- and Y-axes, were statistically significant. Midface distraction in patients with syndromic craniostenosis results in a significant increase (P < 0.05) in the orbit and eyeball volumes. The 2 methods (haptic-aided semiautomatic segmentation and manual 3D slicer segmentation) are reproducible techniques for orbit and eyeball volume measurements.

Introduction: Cleft lip with or without cleft palate (CL/P) stands as the most common congenital facial anomaly, stemming from multifactorial causes. Objective: Our study aimed to ascertain the prevalence and characteristics of cleft palates, identify associated risk factors to inform prevention and prenatal detection for early intervention, and assess postoperative rehabilitation protocols for cleft palates. Design: This study employs a retrospective descriptive and clinical approach. Patients: The study includes 103 children with cleft palates treated at the Department of Head and Neck Surgery Clinic for Children and Young Adults, Department of Clinical Pediatrics, University of Warmia and Mazury. Methods: We conducted a thorough evaluation of records, considering variables such as sex, cleft type, maternal occupation, parental education, and family history of clefts. Data analysis was carried out using R software version GPL-3 and ordinal logistic regression analyses. Results: Notably, children born to mothers who experienced significant stress during pregnancy exhibited a 9.4-fold increase in the odds of having bilateral cleft palates. Conversely, no substantial evidence was found to support the influence of the child’s sex, birth order, body mass, maternal exposure to workplace toxins, infections, or drug toxicity on the dependent variable. Conclusions: Our findings suggest that children with parents who have a history of clefts and those with less educated mothers are more likely to develop bilateral cleft palates. Additionally, children born to mothers experiencing stress during pregnancy face an increased risk of bilateral cleft palates. It is important to note that there is a paucity of literature on rehabilitation following various cleft palate surgical techniques in children.

Extended postoperative mandibular reconstructions due to orofacial disease involving the temporomandibular joint (TMJ) in immature patients remain a challenge as a result of ongoing growth, which is usually affected by the disease and treatment. Current reconstructive techniques based fully on alloplastic total joint replacement fail to meet fully the anatomical and functional requirements for the masticatory system and speech development. Fourteen children aged 12.6 ± 2.6 with tumors or congenital deformities affecting the mandible and TMJ were included in the study. Radical surgical treatment according to our own protocol was performed through microvascular anastomotic flap reconstruction of the soft tissues and bones, together with total TMJ custom replacements. Follow-up lasted 2–6 years. During the follow-up, increases in the mandible body (13% growth) and ramus (12% growth) were observed, both of which were related (p < 0.001). This is the first report concerning the immediate reconstruction of the mandible with ramus and total TMJ in children and adolescents that combines a free vascularized graft and total individual prosthesis of the TMJ. The presented technique enabled optimal function of the TMJ, growth of the mandible, and further rehabilitation of the patients. The technique was demonstrated to be safe, reliable, and provide good functional and cosmetic outcomes.