Patients with syndromic craniosynostosis have a molecularly identified genetic cause for the premature closure of their cranial sutures and associated facial and extra-cranial features. Their clinical complexity demands comprehensive management by an extensive multidisciplinary team. This review aims to marry genotypic and phenotypic knowledge with clinical presentation and management of the craniofacial syndromes presenting most frequently to the craniofacial unit at Great Ormond Street Hospital for Children NHS Foundation Trust.

Only a few reports in the literature have described the use of specific instruments for assessing the quality of life in adolescents and young adults with cleft lip and palate (CLP). This condition markedly affects their lifestyle, even after surgical treatment. In the present study, we aimed to develop a quality-of-life assessment tool specifically designed for such patients with CLP. Our multidisciplinary team created a questionnaire focused on the physical, psychological, and social satisfaction of adolescents and young adults with CLP, which was adapted from 3 dimensions of the 36-item Short-Form Health Survey. The questionnaire was administered to a randomized sample of 40 adolescents and young adults (aged 16–24 years) with CLP who had completed treatment protocols and 40 (aged 16–24 years) who were not affected by CLP.The statistical results stated that the questionnaire had good reliability and validity; the Cronbach α coefficient was found to be 0.944. Moreover, factorial analysis confirmed the presence of 3 subscales that were the fundamental components of this questionnaire, which is consistent with the areas theoretically proposed and from which the items were designed and selected.Thus, we validated our novel questionnaire that was administered in the present study and proved its consistency. However, further investigations on a larger population would be useful to confirm these findings.

In orthognathic surgery, the use of patient-specific osteosynthesis devices is a novel approach used to transfer the virtual surgical plan to the patient. The aim of this study is to analyse the quality of mandibular anatomy reproduction using a mandible-first mandibular-PSI guided procedure on 22 patients. Three different positioning guide designs were compared in terms of osteosynthesis plate positioning and mandibular anatomical outcome. PSIs and positioning guides were designed according to virtual surgical plan and 3D printed using biocompatible materials. A CBCT scan was performed 1 month after surgery and postoperative mandibular models were segmented for comparison against the surgical plan. A precision comparison was carried out among the three groups. Correlations between obtained rami and plates discrepancies and between planned rami displacements and obtained rami discrepancies were calculated. Intraoperatively, all PSIs were successfully applied. The procedure was found to be accurate in planned mandibular anatomy reproduction. Different guide designs did not differ in mandibular outcome precision. Plate positional discrepancies influenced the corresponding ramus position, mainly in roll angle and vertical translation. Ramus planned displacement was found to be a further potential source of inaccuracy, possibly due to osteosynthesis surface interference. Computer-assisted designed and manufactured (CAD/CAM) devices-widely known as Patient Specific Implants (PSIs)-have been increasingly adopted for orthognathic surgery, as per recent evidence in Literature of gaining better accuracy for virtual planning transfer to the patient (

Sagittal craniosynostosis consists of premature fusion (ossification) of the sagittal suture during infancy, resulting in head deformity and brain growth restriction. Spring-assisted cranioplasty (SAC) entails skull incisions to free the fused suture and insertion of two springs (metallic distractors) to promote cranial reshaping. Although safe and effective, SAC outcomes remain uncertain. We aimed hereby to obtain and validate a skull material model for SAC outcome prediction. Computed tomography data relative to 18 patients were processed to simulate surgical cuts and spring location. A rescaling model for age matching was created using retrospective data and validated. Design of experiments was used to assess the effect of different material property parameters on the model output. Subsequent material optimization-using retrospective clinical spring measurements-was performed for nine patients. A population-derived material model was obtained and applied to the whole population. Results showed that bone Young's modulus and relaxation modulus had the largest effect on the model predictions: the use of the population-derived material model had a negligible effect on improving the prediction of on-table opening while significantly improved the prediction of spring kinematics at follow-up. The model was validated using on-table 3D scans for nine patients: the predicted head shape approximated within 2 mm the 3D scan model in 80% of the surface points, in 8 out of 9 patients. The accuracy and reliability of the developed computational model of SAC were increased using population data: this tool is now ready for prospective clinical application.

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