Differential impact of Crouzon and Apert syndromes on upper airways morphology: implications for Obstructive Sleep Apnoea.

Children with syndromic craniosynostoses face high risk of obstructive sleep apnoea (OSA), but the underlying mechanisms remain unclear. This study investigated how Crouzon and Apert syndromes affect airway morphology and contribute to OSA, controlling for age and posture. We also examined the covariation between the upper airways and the craniofacial region (skeleton and soft tissues).

The influence of closed sutures on cranial morphology in Apert and Crouzon syndromes: A quantitative analysis.

Craniosynostoses are congenital conditions characterized by premature suture fusions, altering skull growth and potentially impairing neurological function. Apert and Crouzon syndromes, both linked to FGFR2 mutations, share features but differ in their patterns of suture fusion and cranial deformation. This study quantitatively analyzes, with a high-resolution 3D morphometric analysis, global cranial morphology in syndromic craniosynostoses, comparing Crouzon and Apert syndromes to controls using standard medical CT scans; 72 unoperated patients with syndromic craniosynostoses (51 with Crouzon syndrome, 21 with Apert syndrome) and 289 controls were analyzed.

Validation of a 3D-Printed Multimaterial Transcanal Tympanoplasty Simulator for Endoscopic Ear Surgery.

Background: Simulation is an interesting tool to improve the learning curve of total endoscopic ear surgery (TEES), but hard 3D-printed temporal bones, and cadaveric or animal models have their limits. The objective of this study was to establish face, content, and construct validity for a new 3D-printed multimaterial transcanal tympanoplasty simulator.

Methods: Temporal bone hard and soft tissues were segmented from an anonymized CT scan and 3D-printed using Polyjet multimaterial technology.

Objective Evaluation of 3D Morphology by Statistical Shape Modeling or Geometric Morphometrics Enabling Patient-Specific Treatment in Craniosynostosis-A Systematic Review.

Craniosynostoses are rare congenital conditions characterized by variable severity and a multifactorial relation between morphology and function that remains incompletely understood, impacting outcomes and prognosis. There is no consensus on how to objectively quantify severity. This systematic review aimed to evaluate the use of statistical shape modeling (SSM) and geometric morphometrics (GM) in addressing these challenges and explore their relevance in developing patient-specific treatments.

Respiratory and craniofacial management in children with Apert syndrome.

Few studies have assessed the respiratory and craniofacial management of patients with Apert syndrome. The aim of the study was to report the clinical management at our national reference center over a 25-year-period. The multidisciplinary management of patients with Apert syndrome who had a respiratory polygraphy (PG) at our center was described.

[Quantification of Facial Asymmetry : A Comprehensive Review of Methods and Applications].

Introduction: Facial asymmetry, present in all human faces at varying degrees, plays a critical role in clinical fields such as orthodontics, orthognathic and plastic surgeries, and craniofacial reconstruction. Accurate quantification of facial asymmetry is essential for diagnosis, treatment planning, and post-surgical evaluation.

Material And Methods: This article examines contemporary methods for quantifying facial asymmetry, including two-dimensional (2D) and three-dimensional (3D) landmark-based approaches, surface curvature analysis, and advanced image-based techniques.

Craniosynostosis as a cause of intracranial hypertension in Alagille syndrome: a case series of 6 consecutive pediatric patients.

Objective: Craniosynostoses are an underrecognized cause of intracranial hypertension (ICH), especially when associated with congenital syndromes. Alagille syndrome (ALGS) is a multisystem disorder with typical facial features and hepatobiliary, cardiac, vascular, skeletal, and ocular manifestations. The occurrence of craniosynostosis in ALGS is rare and can be associated with chronic ICH, requiring craniofacial surgery to increase the intracranial volume.

Frontal Bone Resorption after Frontofacial Monobloc Advancement in FGFR -Related Craniosynostoses: Predictive Factors.

Background: Frontofacial monobloc advancement (FFMBA) with internal distraction is a key procedure in managing FGFR -related craniosynostoses. Resorption of the frontal bone flap can occur months to years postoperatively. This study aimed to identify clinical factors associated with the extent of frontal bone resorption in patients with Crouzon or Pfeiffer syndrome.

A physico-mechanical model of postnatal craniofacial growth in human.

Our fundamental understanding of the physico-mechanical forces that drive the size and shape changes of the cranium during ontogeny are limited. Biomechanical models based on finite element method present a huge opportunity to address this critical gap in our knowledge. Here, we describe a validated computational framework to predict normal craniofacial growth.

An Instrumented Hammer to Detect the Rupture of the Pterygoid Plates.

Purpose: Craniofacial osteotomies involving pterygomaxillary disjunction are common procedures in maxillofacial surgery. Surgeons still rely on their proprioception to determine when to stop impacting the osteotome, which is important to avoid complications such as dental damage and bleeding. Our group has developed a technique consisting in using an instrumented hammer that can provide information on the mechanical properties of the tissue located around the osteotome tip.

New diagnostic criteria for metopic ridges and trigonocephaly: a 3D geometric approach.

Background: Trigonocephaly occurs due to the premature fusion of the metopic suture, leading to a triangular forehead and hypotelorism. This condition often requires surgical correction for morphological and functional indications. Metopic ridges also originate from premature metopic closure but are only associated with mid-frontal bulging; their surgical correction is rarely required.

Humanitarian Facial Recognition for Rare Craniofacial Malformations.

Children with congenital disorders are unfortunate collateral victims of wars and natural disasters. Improved diagnosis could help organize targeted medical support campaigns. Patient identification is a key issue in the management of life-threatening conditions in extreme situations, such as in oncology or for diabetes, and can be challenging when diagnosis requires biological or radiological investigations.

Mobility Assessment Using Multi-Positional MRI in Children with Cranio-Vertebral Junction Anomalies.

Objective: This study aimed to assess the relevance of using multi-positional MRI (mMRI) to identify cranio-vertebral junction (CVJ) instability in pediatric patients with CVJ anomalies while determining objective mMRI criteria to detect this condition.

Material And Methods: Data from children with CVJ anomalies who underwent a mMRI between 2017 and 2021 were retrospectively reviewed. Mobility assessment using mMRI involved: (1) morphometric analysis using hierarchical clustering on principal component analysis (HCPCA) to identify clusters of patients by considering their mobility similarities, assessed through delta (Δ) values of occipito-cervical parameters measured on mMRI; and (2) morphological analysis based on dynamic geometric CVJ models and analysis of displacement vectors between flexion and extension.

Genetic determinism and hemispheric influence in hair whorl formation.

Background: The mechanisms determining the laterality and the rotation direction of hair whorls are unknown. Here we report observations on twins investigating the genetic bases of whorl pattern formation. Knowing that vortex phenomena may depend on geographic effects, we also provide comparative data on whorls from children born in the Northern hemisphere (France) versus children born in the Southern hemisphere (Chile).

Facial dog bites in children: A public health problem highlighted by COVID-19 lockdown.

Background: Stay-at-home injunction during COVID-19 pandemic led to new dynamics in households and increased the risk of domestic accidents involving pets. The aim of the study was to demonstrate an increase of facial dog bites in children during first lockdown period in France, compared to the same period in 2018 and 2019. Secondary objective was to investigate the demographics and circumstances in which dog bites occurred.

Biallelic truncating variants in cause syngnathia in humans.

Background: Syngnathia is an ultrarare craniofacial malformation characterised by an inability to open the mouth due to congenital fusion of the upper and lower jaws. The genetic causes of isolated bony syngnathia are unknown.

Methods: We used whole exome and Sanger sequencing and microsatellite analysis in six patients (from four families) presenting with syngnathia.

Effects of distraction osteogenesis with Le Fort osteotomies on upper airway volumes: a systematic review and meta-analyses.

Objective: Distraction osteogenesis is one of the treatment options in patients with severe maxillomandibular abnormalities to treat morphological and respiratory problems (obstructive sleep apnea syndrome). The study aimed to evaluate the effect of Le Fort I, II and III distraction osteogenesis (DO) on upper airway dimensions and respiratory function.

Methods: Electronic search was performed in PubMed, Scopus, Embase, Google Scholar and Cochrane databases.

Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients.

Background: Achondroplasia is the most frequent FGFR3-related chondrodysplasia, leading to rhizomelic dwarfism, craniofacial anomalies, stenosis of the foramen magnum, and sleep apnea. Craniofacial growth and its correlation with obstructive sleep apnea syndrome has not been assessed in achondroplasia. In this study, we provide a multimodal analysis of craniofacial growth and anatomo-functional correlations between craniofacial features and the severity of obstructive sleep apnea syndrome.