Hypochondroplasia (HCH) is a mild dwarfism caused by missense mutations in fibroblast growth factor receptor 3 (FGFR3), with the majority of cases resulting from a heterozygous p.Asn540Lys gain-of-function mutation. Here, we report the generation and characterization of the first mouse model (Fgfr3Asn534Lys/+) of HCH to our knowledge. Fgfr3Asn534Lys/+ mice exhibited progressive dwarfism and impairment of the synchondroses of the cranial base, resulting in defective formation of the foramen magnum. The appendicular and axial skeletons were both severely affected and we demonstrated an important role of FGFR3 in regulation of cortical and trabecular bone structure. Trabecular bone mineral density (BMD) of long bones and vertebral bodies was decreased, but cortical BMD increased with age in both tibiae and femurs. These results demonstrate that bones in Fgfr3Asn534Lys/+ mice, due to FGFR3 activation, exhibit some characteristics of osteoporosis. The present findings emphasize the detrimental effect of gain-of-function mutations in the Fgfr3 gene on long bone modeling during both developmental and aging processes, with potential implications for the management of elderly patients with hypochondroplasia and osteoporosis.

/pdf/hypochondroplasia-gain-of-function-mutation-in-fgfr3-causes-eziu825r.pdf

Hypochondroplasia gain-of-function mutation in FGFR3 causes defective bone mineralization in mice.

Craniosynostosis: Monobloc Distraction with Internal Device and Its Variant for Infants with Severe Syndromic Craniosynostosis.

To develop a 3D morphable model of the normal paediatric mandible to analyse shape development and growth patterns for males and females.Computed tomography (CT) data was collected for 242 healthy children referred for CT scan between 2011 and 2018 aged between 0 and 47 months (mean, 20.6 ± 13.4 months, 59.9% male). Thresholding techniques were used to segment the mandible from the CT scans. All mandible meshes were annotated using a defined set of 52 landmarks and processed such that all meshes followed a consistent triangulation. Following this, the mandible meshes were rigidly aligned to remove translation and rotation effects, while size effects were retained. Principal component analysis (PCA) was applied to the processed meshes to construct a generative 3D morphable model. Partial least squares (PLS) regression was also applied to the processed data to extract the shape modes with which to evaluate shape differences for age and sex. Growth curves were constructed for anthropometric measurements.A 3D morphable model of the paediatric mandible was constructed and validated with good generalisation, compactness, and specificity. Growth curves of the assessed anthropometric measurements were plotted without significant differences between male and female subjects. The first principal component was dominated by size effects and is highly correlated with age at time of scan (Spearman's r = 0.94, p < 0.01). As with PCA, the first extracted PLS mode captures much of the size variation within the dataset and is highly correlated with age (Spearman's r = -0.94, p < 0.01). Little correlation was observed between extracted shape modes and sex with either PCA or PLS for this study population.The presented 3D morphable model of the paediatric mandible enables an understanding of mandibular shape development and variation by age and sex. It allowed for the construction of growth curves, which contains valuable information that can be used to enhance our understanding of various disorders that affect the mandibular development. Knowledge of shape changes in the growing mandible has potential to improve diagnostic accuracy for craniofacial conditions that impact the mandibular morphology, objective evaluation, surgical planning, and patient follow-up. 

https://doi.org/10.1016/j.bonr.2022.101528

Growth patterns and shape development of the paediatric mandible – A 3D statistical model

FGFR3 gain-of-function mutation leads to learning and memory impairments independently of skull abnormalities. Cornille et al. suggest that modulation of the FGFR3 signaling pathway might be of value for treating the neurological and cognitive impairments observed in craniosynostosis.

/pdf/fgfr3-overactivation-in-the-brain-is-responsible-for-memory-1y86ymxr.pdf

FGFR3 overactivation in the brain is responsible for memory impairments in Crouzon syndrome mouse model

The purpose of this meta-analysis was to strengthen the credibility of primary research results by combining open-source scientific material, namely a comparison of craniofacial features (Cfc) between Crouzon's syndrome (CS) patients and non-CS populations. All articles published up to October 7, 2021, were included in the search of PubMed, Google Scholar, Scopus, Medline, and Web of Science. The PRISMA guidelines were followed to conduct this study. PECO framework was applied in the following ways: Those who have CS are denoted by the letter P, those who have been diagnosed with CS via clinical or genetic means by the letter E, those who do not have CS by the letter C, and those who have a Cfc of CS by the letter O. Independent reviewers collected the data and ranked the publications based on their adherence to the Newcastle-Ottawa Quality Assessment Scale. A total of six case-control studies were reviewed for this meta-analysis. Due to the large variation in cephalometric measures, only those published in at least two previous studies were included. This analysis found that CS patients had a smaller skull and mandible volumes than those without CS.in terms of SNA° (MD = −2.33, p = <0.001, I2 = 83.6%) and ANB°(MD = −1.89, p = <0.005, I2 = 93.1%)), as well as ANS (MD = −1.87, p = 0.001, I2 = 96.5%)) and SN/PP (MD = −1.99, p = 0.036, I2 = 77.3%)). In comparison to the general population, people with CS tend to have shorter and flatter cranial bases, smaller orbital volumes, and cleft palates. They differ from the general population in having a shorter skull base and more V-shaped maxillary arches.

https://doi.org/10.1177/00368504231156297

Craniofacial characteristics in Crouzon's syndrome: A systematic review and meta-analysis

Early mandibular morphological differences in patients with FGFR2 and FGFR3-related syndromic craniosynostoses: a 3D comparative study

1French National Reference Center for craniofacial malformations (CRMR CRANIOSTNecker Craniofacial Unit) – Hopital Necker Enfants Malades, 2Sleep Study Unit and pediatric pneumology – Hôpital Necker Enfants Malades, Paris, 3Clinique Marcel Sembat Ramsay-Generale de Santé, Boulogne-Billancourt, 4Pediatric ENT department, Hôpital Necker Enfants Malades, Paris, France, 5University Hospital of Helsinki, Helsinki, Finland, 6Pediatric Maxillofacial department, Hôpital Necker Enfants Malades, 7Sleep Study Unit, sommeil75, 8Genetic department, Hôpital Necker Enfants Malades, 9Genetic department, Hôpital Lariboisière, 10INSERM U1163, Institut Imagine, Hôpital Necker Enfants-Malades; Université Paris-Descartes, Paris, France, 11Pediatricneurosurgical intensive care unit, Hôpital Necker Enfants Malades, Paris, France

S3-17 SESSION 3: FACIOCRANIOSYNOSTOSIS – PART I FRONTO-FACIAL MONOBLOC ADVANCEMENT WITH DISTRACTION REDUCES SEVERE OBSTRUCTIVE SLEEP APNEA IN FACIOCRANIOSYNOSTOSESc PROSPECTIVE ASSESSMENT OF 109 CASES

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Early mandibular morphological differences in patients with FGFR2 and FGFR3-related syndromic craniosynostoses: a 3D comparative study

S3-17 SESSION 3: FACIOCRANIOSYNOSTOSIS – PART I FRONTO-FACIAL MONOBLOC ADVANCEMENT WITH DISTRACTION REDUCES SEVERE OBSTRUCTIVE SLEEP APNEA IN FACIOCRANIOSYNOSTOSESc PROSPECTIVE ASSESSMENT OF 109 CASES