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Crouzon syndrome: Genetic and intervention review [PDF]

Journal of Oral Biology and Craniofacial Research, 2019
Crouzon syndrome exhibits considerable phenotypic heterogeneity, in the aetiology of which genetics play an important role. FGFR2 mediates extracellular signals into cells and the mutations in the FGFR2 gene cause this syndrome occurrence. Activated FGFs/
N.M. Al-Namnam, F. Hariri, M.K. Thong, Z.A. Rahman   +3 more
doaj   +2 more sources

Clinical characteristics of Crouzon syndrome.

Oman J Ophthalmol, 2017
Crouzon syndrome (CS) is an genetic disorder with autosomal dominant inheritance caused by mutation of the gene for fibroblast growth factor receptor 2 (FGFR2) was described as one of the varieties of craniosynostosis. In this presented case, premature closure of the sutures had caused restricted skull growth and lack of space for the growing brain ...
Balyen L, Deniz Balyen LS, Pasa S.
europepmc   +4 more sources

QS3: Influence Of Nonsyndromic Bicoronal Synostosis And Syndromic Influences On And Periorbital Malformation

Plastic and Reconstructive Surgery, Global Open, 2021
Background Oculo-orbital disproportion in patients with craniosynostosis have similarities and dissimilarities between syndromic and nonsyndromic cases. We hypothesize these two conditions have specific individual influences as it relates to development ...
Xiaona Lu, MD, PhD, Antonio Jorge Forte, MD, PhD, Michael Alperovich, MD, Nivaldo Alonso, MD, PhD, John A. Persing, MD   +4 more
doaj   +1 more source

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome [PDF]

, 2014
Background: Mutations of fibroblast growth factor receptor 2 (FGFR2) account for a higher proportion of genetic cases of craniosynostosis than any other gene, and are associated with a wide spectrum of severity of clinical problems.
Fenwick, A.L. (Aimée), Goos, J.A.C. (Jacqueline), Hoogeboom, A.J.M. (Jeannette), Lester, K.J. (Kathryn), Lord, H. (Helen), Mathijssen, I.M.J. (Irene), Ouweland, A.M.W. (Ans) van den, Rankin, J. (Julia), Wall, S.A. (Steven), Wilkie, A.O.M. (Andrew)   +9 more
core   +5 more sources

Crouzon syndrome with strabismus

Asian Journal of Surgery, 2021
Jing He, Jing Chen, Wei-Wei Zhou, Hong-Wei Deng   +3 more
doaj   +3 more sources

The Crouzan Syndrome-A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2013
The Crouzon syndrome is a genetic disorder which is known as the brachial arch syndrome. It is an autosomal dominant disorder which is one of a rare group of syndromes which is characterized by cranio synostosis or a premature closing of the cranial ...
Manu Prasad, Ashwini S. Shetty, Manjula Shantaram   +2 more
doaj   +1 more source

Crouzon’s syndrome with adenotonsillitis: conventional surgery in altered anatomy. [PDF]

, 2013
Background/Objectives: Crouzon’s syndrome is characterized by premature closure of the cranial sutures, midface hypoplasia, orbital deformities & other associated abnormalities.Children with Crouzon syndrome frequently have obstructive sleep apnea ...
Appaji, Mohan, Devi, Pinky, MK, Goutham, Naik, Sarika s, Naik, Sudhir M, S, Ravishankar, SM, Annapurna   +6 more
core   +2 more sources

Mechanical properties of calvarial bones in a mouse model for craniosynostosis [PDF]

, 2015
The mammalian cranial vault largely consists of five flat bones that are joined together along their edges by soft fibrous tissues called sutures. Premature closure of the cranial sutures, craniosynostosis, can lead to serious clinical pathology unless ...
Babbs, Christian, Fagan, Michael J., Moazen, Mehran, Pauws, Erwin, Peskett, Emma   +4 more
core   +7 more sources

Crouzon syndrome: A comprehensive review and case report

Journal of Dr. NTR University of Health Sciences, 2017
Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis of coronal and sagittal sutures. Crouzon syndrome is caused by mutation in the fibroblast growth factor receptor-2 (FGFR-2) gene.
Aditi Gaur, Sandhya Maheshwari, Sanjeev Kumar Verma, Mohammad Tariq   +3 more
doaj   +1 more source

Anaesthetic Management and Literature Review of Syndromic Craniosynostosis in Infants-A Case Series [PDF]

Journal of Clinical and Diagnostic Research, 2022
Craniosynostosis is a rare congenital defect. This group of patients is heterogeneous, presenting as a single suture defect in otherwise well child to Syndromic Craniosynostosis (SC) affecting multiple sutures as cranial defect associated with ...
Smriti Sinha, Reena R Kadni , Joel Chakravarthy, Varghese K Zachariah   +3 more
doaj   +1 more source