The growth of the posterior cranial fossa in FGFR2-induced faciocraniosynostosis: A review

Coll, Guillaume; Rabbo, Francis Abed; Jecko, Vincent; Sakka, Laurent; Rocco, F. Di; Delion, Matthieu

doi:10.1016/j.neuchi.2019.09.005

Cited by 10 publications

(5 citation statements)

References 41 publications

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“…Midline synchondroses with growth characteristics have been described between midline ossification centers in in many nonprimates (e.g., Baume, 1968; Durham et al, 2017), and some nonhuman primates (Smith et al, 2017). In addition, mutations in fibroblast growth factor receptors are known, in several craniofacial syndromes, to greatly alter the form of the posterior cranial fossa through effects on endochondral bone growth (e.g., Driessen et al, 2017; Coll et al, 2019; and see Ornitz, 2005). Accordingly, we predict multiple growth centers are ubiquitous among midline basicranial articulations and among bilateral basicranial articulations of the posterior cranial fossa.…”

Section: Introductionmentioning

confidence: 99%

Cranial synchondroses of primates at birth

Smith

Reynolds

Mano

et al. 2020

The Anatomical Record

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Cranial synchondroses are cartilaginous joints between basicranial bones or between basicranial bones and septal cartilage, and have been implicated as having a potential active role in determining craniofacial form. However, few studies have examined them histologically. Using histological and immunohistochemical methods, we examined all basicranial joints in serial sagittal sections of newborn heads from nine genera of primates (five anthropoids, four strepsirrhines). Each synchondrosis was examined for characteristics of active growth centers, including a zonal distribution of proliferating and hypertrophic chondrocytes, as well as corresponding changes in matrix characteristics (i.e., density and organization of Type II collagen). Results reveal three midline and three bilateral synchondroses possess attributes of active growth centers in all species (sphenooccipital, intrasphenoidal, presphenoseptal). One midline synchondrosis (ethmoseptal) and one bilateral synchondrosis (alibasisphenoidal synchondrosis [ABS]) are active growth centers in some but not all newborn primates. ABS is oriented more anteriorly in monkeys compared to lemurs and bushbabies. The sphenoethmoidal synchondrosis (SES) varies at birth: in monkeys, it is a suture‐like joint (i.e., fibrous tissue between the two bones); however, in strepsirrhines, the jugum sphenoidale is ossified while the mesethmoid remains cartilaginous. No species possesses an SES that has the organization of a growth plate. Overall, our findings demonstrate that only four midline synchondroses have the potential to actively affect basicranial angularity and facial orientation during the perinatal timeframe, while the SES of anthropoids essentially transitions toward a “suture‐like” function, permitting passive growth postnatally. Loss of cartilaginous continuity at SES and reorientation of ABS distinguish monkeys from strepsirrhines.

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Section: Introductionmentioning

confidence: 99%

Cranial synchondroses of primates at birth

Smith

Reynolds

Mano

et al. 2020

The Anatomical Record

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“…The aforementioned authors also reported on some genetic findings related to the PCF hypoplasia in syndromic craniosynostosis. Actually, FGFR2 mutations involving exons 3a and 3c occur more frequently in patients developing CIM [ 2 , 3 , 10 ]. Among the FGFR2 patients, as anticipated, the phenotypic alteration can greatly change the PCF dimension alongside the different syndromes.…”

Section: Impact Of Pcf Changes On Craniosynostosismentioning

confidence: 99%

“…This different timing in growth is related to an initial absence of ossification in the petro-occipital, the occipito-mastoid, and the spheno-occipital synchondroses. The aforementioned mechanism is different between males and females, the rapid growth phase being shorter and faster in girls [ 3 , 4 ].…”

Section: Introductionmentioning

confidence: 99%

“…Only a few studies in the literature are focused on the normal volume of PCF or on its measures in healthy children. Coll and colleagues observed a bigger PCF in boys compared with girls at the endo of the development, as results of a smaller PCF size in the girls at birth [ 3 ]. Rehder et al measured the mean tentorial angle (the angle between tentorium and a line from the internal occipital protuberance to tuberculum sellae) in healthy children, which was 42.38 degrees, and the mean occipital angle (the angle between the tentorium and a line from internal occipital protuberance to opisthion), which was 90.58 degrees [ 5 , 6 ].…”

Section: Introductionmentioning

confidence: 99%

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Functional and morphological changes in hypoplasic posterior fossa

et al. 2021

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Background The knowledge of the development and the anatomy of the posterior cranial fossa (PCF) is crucial to define the occurrence and the prognosis of diseases where the surface and/or the volume of PCF is reduced, as several forms of craniosynostosis or Chiari type I malformation (CIM). To understand the functional and morphological changes resulting from such a hypoplasia is mandatory for their correct management. The purpose of this article is to review the pertinent literature to provide an update on this topic. Methods The related and most recent literature addressing the issue of the changes in hypoplasic PCF has been reviewed with particular interest in the studies focusing on the PCF characteristics in craniosynostosis, CIM, and achondroplasia. Results and conclusions In craniosynostoses, namely, the syndromic ones, PCF shows different degrees of hypoplasia, according to the different pattern and timing of early suture fusion. Several factors concur to PCF hypoplasia and contribute to the resulting problems (CIM, hydrocephalus), as the fusion of the major and minor sutures of the lambdoid arch, the involvement of the basal synchondroses, and the occlusion of the jugular foramina. The combination of these factors explains the variety of the clinical and radiological phenotypes. In primary CIM, the matter is complicated by the evidence that, in spite of impaired PCF 2D measurements and theories on the mesodermal defect, the PCF volumetry is often comparable to healthy subjects. CIM is revealed by the overcrowding of the foramen magnum that is the result of a cranio-cerebral disproportion (altered PCF brain volume/PCF total volume). Sometimes, this disproportion is evident and can be demonstrated (basilar invagination, real PCF hypoplasia); sometimes, it is not. Some recent genetic observations would suggest that CIM is the result of an excessive growth of the neural tissue rather than a reduced growth of PCF bones. Finally, in achondroplasia, both macrocephaly and reduced 2D and 3D values of PCF occur. Some aspects of this disease remain partially obscure, as the rare incidence of hydrocephalus and syringomyelia and the common occurrence of asymptomatic upper cervical spinal cord damage. On the other hand, the low rate of CIM could be explained on the basis of the reduced area of the foramen magnum, which would prevent the hindbrain herniation.

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“…Fibroblast growth factor receptor 2 ( Fgfr 2) is a cell membrane surface receptor that plays a critical role in bone development and homeostasis ( Marie, 2012 ; Coffin et al, 2018 ; Coll et al, 2019 ). Fgfr 2 is expressed during embryonic bone development and is involved in the osteogenesis of both skull and long bones ( Su et al, 2014 ).…”

Section: Introductionmentioning

confidence: 99%

Overexpression of fibroblast growth factor receptor 2 in bone marrow mesenchymal stem cells enhances osteogenesis and promotes critical cranial bone defect regeneration

Zhou

Zhu

Shen

et al. 2023

Front. Cell Dev. Biol.

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Background: Reconstruction of cranial bone defects is one of the most challenging problems in reconstructive surgery, and several biological tissue engineering methods have been used to promote bone repair, such as genetic engineering of bone marrow mesenchymal stem cells (BMSCs). Fibroblast growth factor receptor 2 (Fgfr2) is an important regulator of bone construction and can be used as a potential gene editing site. However, its role in the osteogenesis process of BMSCs remains unclear. This article clarifies the function of Fgfr2 in BMSCs and explores the role of Fgfr2-overexpressed BMSCs carried by light-induced porous hydrogel (GelMA) in the repair of cranial bone defects.Methods: Lenti-virus was used to overexpress Fgfr2 in BMSCs, and cell counting kit-8, transwell, and flow cytometry assays were conducted to investigate the proliferation, migration, and characteristics. After 0, 3, 7, and 10 days of osteogenic or chondrogenic induction, the changes in osteogenic and chondrogenic ability were detected by real-time PCR, western blot, alkaline phosphatase staining, alizarin Red staining, and alcian blue staining. To investigate the viability of BMSCs carried by GelMA, calcein and propyl iodide staining were carried out as well. Finally, a critical cranial bone defect model was established in 6-week-old male mice and micro-computerized tomography, masson staining, and immunohistochemistry of OCN were conducted to test the bone regeneration properties of implanting Fgfr2-overexpressed BMSCs with GelMA in cranial bone defects over 6 weeks.Results: Overexpression of Fgfr2 in BMSCs significantly promoted cell proliferation and migration and increased the percentage of CD200+CD105+ cells. After osteogenic and chondrogenic induction, Fgfr2 overexpression enhanced both osteogenic and chondrogenic ability. Furthermore, in cranial bone defect regeneration, BMSCs carried by light-induced GelMA showed favorable biocompatibility, and Fgfr2-overexpressed BMSCs induced superior cranial bone regeneration compared to a normal BMSCs group and an untreated blank group.Conclusion:In vitro, Fgfr2 enhanced the proliferation, migration, and stemness of BMSCs and promoted osteogenesis and chondrogenesis after parallel induction. In vivo, BMSCs with Fgfr2 overexpression carried by GelMA showed favorable performance in treating critical cranial bone defects. This study clarifies the multiple functions of Fgfr2 in BMSCs and provides a new method for future tissue engineering.

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The growth of the posterior cranial fossa in FGFR2-induced faciocraniosynostosis: A review

Cited by 10 publications

References 41 publications

Cranial synchondroses of primates at birth

Cranial synchondroses of primates at birth

Functional and morphological changes in hypoplasic posterior fossa

Overexpression of fibroblast growth factor receptor 2 in bone marrow mesenchymal stem cells enhances osteogenesis and promotes critical cranial bone defect regeneration

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