Craniofacial Dysostosis (Crouzon Disease)

Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.

Also Known As:

Crouzon Disease; Craniofacial Dysarthrosis; Craniofacial Dysostosis Syndrome; Craniofacial Dysostosis Type 1; Craniofacial Dysostosis, Type I; Crouzon Craniofacial Dysostosis; Crouzon Syndrome; Craniofacial Dysarthroses; Craniofacial Dysostoses; Craniofacial Dysostosis Syndromes; Craniofacial Dysostosis, Crouzon; Crouzons Disease; Dysarthroses, Craniofacial; Dysarthrosis, Craniofacial; Dysostoses, Craniofacial; Crouzon's Disease; Dysostosis, Craniofacial

Networked: 243 relevant articles (4 outcomes, 23 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Congenital Abnormalities (Deformity)
2.	Synostosis
3.	Craniosynostoses (Craniosynostosis)
4.	Acrocephalosyndactylia (Apert Syndrome)
5.	Intracranial Hypertension

Experts

1.	Raposo-Amaral, Cassio Eduardo: 4 articles (07/2022 - 02/2014)
2.	Raposo-Amaral, Cesar Augusto: 4 articles (07/2022 - 02/2014)
3.	Alperovich, Michael: 4 articles (05/2022 - 09/2017)
4.	Steinbacher, Derek M: 4 articles (05/2020 - 01/2016)
5.	Ai, Siming: 4 articles (11/2017 - 01/2012)
6.	Lin, Ying: 4 articles (11/2017 - 01/2012)
7.	Bartlett, Scott P: 4 articles (04/2016 - 08/2008)
8.	Dunaway, David: 4 articles (03/2009 - 01/2008)
9.	Song, Tao: 3 articles (10/2022 - 09/2017)
10.	Ghizoni, Enrico: 3 articles (07/2022 - 01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Craniofacial Dysostosis:

1.	Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA 11/01/2017 - "The aim of the present study was to identify mutations in the fibroblast growth factor receptor 2 (FGFR2) gene in patients with Crouzon syndrome and characterize the associated clinical features. " 09/01/2016 - "The purpose of the present study was to investigate the fibroblast growth factor receptor 2 (FGFR 2) gene in two Chinese families with Crouzon syndrome and to characterize the associated clinical features. " 01/01/2012 - "The purpose of this study was to investigate the fibroblast growth factor receptor 2 (FGFR2) gene in three Chinese patients with Crouzon syndrome and to characterize the related clinical features. " 01/01/2012 - "The purposed of this study was to investigate the fibroblast growth factor receptor 2 (FGFR2) gene in one Chinese family with Crouzon syndrome and to characterize the related clinical features. " 06/06/2022 - "Crouzon syndrome (CS; OMIM 123500) is an autosomal dominant inherited craniofacial disorder caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. "
2.	Fibroblast Growth Factor Receptors (Fibroblast Growth Factor Receptor)IBA 08/01/2002 - "The goal of the present study was to examine mutations in the fibroblast growth factor receptor (FGFR) genes in Crouzon syndrome and its related conditions. " 05/01/1995 - "This work supports genetic studies and yet shows that patients with Crouzon's disease have low FGF receptor 2 activity in cranial sutures. " 04/01/2008 - "To detect the gene mutation of fibroblast growth factor receptor (FGFR2)in a Crouzon syndrome family and a sporadic patient. " 10/01/2007 - "Crouzon syndrome is an autosomal dominant disorder caused by mutation in the fibroblast growth factor receptor (FGFR)-2 gene. " 05/01/2004 - "Aberrant bony vasculature associated with activating fibroblast growth factor receptor mutations accompanying Crouzon syndrome."
3.	Proteins (Proteins, Gene)FDA Link 01/01/2018 - "Crouzon syndrome is an autosomal-dominant congenital disease due to a mutation in the fibroblast growth factor receptor 2 protein. " 01/01/2021 - "In this study, we investigated the levels of mRNA and protein expression related to cellular differentiation of Crouzon syndrome patient-derived DPSCs (CS-DPSCs) with a Gly338Arg fibroblast growth factor receptor 2 mutation. " 01/01/2019 - "A 3 mm wide circular CSD was created in two murine models of Crouzon syndrome: (i) surgical control (CSDs without TNT/Ti or any protein, n=6) and (ii) experimental groups with TNT/Ti loaded with GPC3, further subdivided into the presence or absence of chitosan coating (on nanotubes) (n=12 in each group). " 11/03/1995 - "We report here that microinjection of Xenopus embryos with RNA encoding an FGFR-2 protein bearing a Cys332-->Tyr mutation (FGFR-2CS) found in Crouzon syndrome results in fibroblast growth factor (FGF)-independent induction of mesoderm in animal pole explants. "
4.	Protein Isoforms (Isoforms)IBA 09/01/2012 - "The involvement of the IIIb isoform of FGFR2 in the etiopathology of Crouzon syndrome is a novel finding in the craniosynostosis literature field. " 11/09/2018 - "Paradoxically, mouse studies have shown that the activation (Fgfr2cC342Y; a mouse model for human Crouzon syndrome), as well as the removal (Fgfr2cnull), of the FGFR2c isoform can drive suture abolishment. "
5.	SolutionsIBA 06/01/2019 - "The use of the PM plane as reference could be the solution to problems that have been an obstacle for the study of occlusal and facial changes in patients affected by craniofacial dysostosis."
6.	Messenger RNA (mRNA)IBA 01/01/2021 - "In this study, we investigated the levels of mRNA and protein expression related to cellular differentiation of Crouzon syndrome patient-derived DPSCs (CS-DPSCs) with a Gly338Arg fibroblast growth factor receptor 2 mutation. "
7.	ElementsIBA 01/01/1990 - "Finite-element scaling analysis (FESA), generalized procrustes analysis (GPA), and Euclidean distance matrix analysis (EDMA) are applied in a two-dimensional study of craniofacial growth in normal children and those affected with Crouzon syndrome. "
8.	Capsules (Microcapsules)IBA 01/01/1991 - "The study suggests that CLS is a severe malformation of Crouzons disease due to teratogenic damage in the first trimester of pregnancy causing developmental aberration of primary mesenchyme of the neurocranial capsule and base of the skull. "
9.	Fibroblast Growth Factors (Fibroblast Growth Factor)IBA 01/01/2020 - "Crouzon syndrome (CS) is a rare autosomal dominant inherited disorder caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. " 12/01/2014 - "Crouzon syndrome, although of variable penetrance, is thought to be caused in part by a mutation in the fibroblast growth factor receptor-2 (FGFR2) on chromosome 10. " 11/03/1995 - "Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome." 06/01/1995 - "Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome." 05/01/2013 - "Crouzon syndrome is a debilitating congenital disorder involving abnormal craniofacial skeletal development caused by mutations in fibroblast growth factor receptor-2 (FGFR2). "
10.	LigandsIBA 12/20/2013 - "To test this idea, we infected migrating neural crest cells of chicken embryos with replication-competent avian sarcoma virus expressing either FgfR2(C278F), a receptor mutation found in Crouzon syndrome or the ligand Fgf8. " 07/01/1997 - "Mutation associated with Crouzon syndrome causes ligand-independent dimerization and activation of FGF receptor-2." 07/01/2006 - "Crouzon syndrome is caused by mutations in fibroblast growth factor receptor 2 (FGFR2) leading to constitutive activation of receptors in the absence of ligand binding. " 11/03/1995 - "These results indicate that FGFR-2CS forms an intermolecular disulfide bond resulting in receptor dimerization and ligand-independent activation that may play a role in the etiology of Crouzon syndrome."

Therapies and Procedures

1.	Osteotomy 05/01/2006 - "The LeFort III osteotomy is the surgical treatment performed in patients with mid-facial retrusions in craniofacial dysostoses such as Crouzon, Apert, Pfeiffer syndromes, etc. The first authors to report the accomplishment of this osteotomy were Gillies and Harrison in 1951, this technique was then resumed and improved by Tessier in 1967, who made five different variants mainly regarding the typology of the osteotomy concerning the lateral wall of the orbit. " 01/01/2023 - "Surgeons should be aware that patients with Crouzon syndrome have the potential for an unrecognized dural injury during LeFort III osteotomy due to anatomical differences such as inferior displacement and thinning of the anterior cranial base." 01/01/2023 - "Cranial Base Reconstruction and Secondary Frontal Advancement for Meningoencephalocele Following LeFort III Osteotomy in a Patient with Crouzon Syndrome: Case Report." 10/01/2022 - "Five consecutive patients with Crouzon syndrome underwent Le Fort III osteotomy with midface advancement using a modified external device. " 03/01/2022 - "Frontofacial advancement using Le Fort III osteotomy is the conventional method for treating patients with Crouzon syndrome. "
2.	Distraction Osteogenesis 11/01/2022 - "Behavioral, Learning Skills, and Visual Improvement in Crouzon Syndrome Patient Following Late Posterior Vault Distraction Osteogenesis." 03/01/2019 - "Midface correction in patients with Crouzon syndrome is Le Fort III distraction osteogenesis with a rigid external distraction device the gold standard?" 03/01/2019 - "The aim of this study was to investigate treatment effect, perioperative parameters and volumetric outcomes after Le Fort III distraction osteogenesis in patients with Crouzon syndrome in a retrospective study design and to explore potential strengths and weaknesses of this procedure. " 11/01/2023 - "Long-term follow-up of a patient diagnosed with Crouzon syndrome who underwent Le Fort I and III distraction osteogenesis using a rigid external distractor system." 01/01/2022 - "The authors report a consecutive series of thirty patients with craniofacial dysostosis treated through monobloc differential distraction osteogenesis. "
3.	Sutures (Suture) 01/01/2023 - "Foramen magnum morphology is restricted in Crouzon syndrome but not directly caused by early suture fusion. " 01/01/2023 - "3D volumetric evaluation of the basioccipital, exo-occipital, and supraoccipital bones revealed decreased growth in Crouzon syndrome, attributed solely to premature minor suture fusion. " 01/01/2023 - "To identify skull-base growth patterns in Crouzon syndrome, we hypothesized premature minor suture fusion restricts occipital bone development, secondarily limiting foramen magnum expansion. " 01/01/2023 - "Morphology of the Occipital Bones and Foramen Magnum Resulting From Premature Minor Suture Fusion in Crouzon Syndrome." 02/19/2021 - "Crouzon syndrome is a craniofacial malformation caused by premature fusion of fibrous sutures in infants. "
4.	Operative Surgical Procedures 03/01/2019 - "Le Fort III DO with a rigid external distraction device in patients with Crouzon syndrome is a powerful and reliable surgical procedure that reliably produces a more significant change of appearance than most other single procedures routinely performed by craniofacial surgeons. " 12/01/2000 - "We retrospectively reviewed the surgical management and outcomes of 14 patients with craniofacial dysostosis who underwent 16 operations to determine the optimal surgical procedure and to report on extraocular muscle anomalies noted at the time of surgery. " 05/01/2007 - "An ultrasonic device was employed in different craniofacial surgical procedures: 1. to remove the superior orbital roof in 30 cases of craniofaciostenosis, 2. to perform a Le Fort III osteotomy for the treatment of Crouzon syndrome in two patients, 3. to cut the parietal and frontal bone in 30 cases of craniofaciostenosis. " 01/01/2022 - "The present case report study aims to describe a patient with midface deficiency due to the Crouzon syndrome who has undergone a combination of modified LeFort III osteotomy with the periocular approach and LeFort I osteotomy, nasal dorsum augmentation accompanied by genioplasty, wholly as a single surgical procedure which has been shown that can result in highly satisfactory outcomes for both patient and surgeon." 10/01/2021 - "The goal of this study is to analyze the safety of reconstructive surgeries for Crouzon syndrome, and to understand the deformities and complications related to the surgical procedure. "
5.	Ventriculoperitoneal Shunt 12/01/2021 - "We present the case of an infant with Crouzon syndrome who was scheduled for a ventriculoperitoneal shunt placement managed with inhalational induction." 07/01/2007 - "Facial diplegia revealing ventriculoperitoneal shunt failure in a patient with Crouzon syndrome. " 11/01/2005 - "We present a 5-year-old girl with Crouzon's disease who suffered from an acquired Chiari I malformation after insertion of a ventriculoperitoneal shunt and a coexistent ventral odontoid panus. " 05/01/1996 - "This study evaluated the presence of extradural dead space following a monobloc or facial bipartition osteotomy and examined its natural history and relationship to postoperative infection and the presence of a ventriculoperitoneal shunt at the time of osteotomy in a consecutive series of patients with craniofacial dysostosis, frontonasal dysplasia, midline cranio-orbital clefts, and orbital hypertelorism. "