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1986 1
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1999 1
2000 1
2002 3
2003 1
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2006 1
2008 1
2009 1
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83 results

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Page 1
Management of craniosynostoses.
Renier D, Lajeunie E, Arnaud E, Marchac D. Renier D, et al. Childs Nerv Syst. 2000 Nov;16(10-11):645-58. doi: 10.1007/s003810000320. Childs Nerv Syst. 2000. PMID: 11151714 Review.
Squamosal Suture Synostosis: An Under-Recognized Phenomenon.
W Beiriger J, Zhu X, Bruce MK, Irgebay Z, Smetona J, Losee JE, Goldstein JA. W Beiriger J, et al. Cleft Palate Craniofac J. 2023 Oct;60(10):1267-1272. doi: 10.1177/10556656221100675. Epub 2022 May 20. Cleft Palate Craniofac J. 2023. PMID: 35593077 Review.
The significance of SQS synostosis is currently unclear, and warrants further investigation into this phenomenon, its natural course, and its potential presence in the spectrum of normal development....
The significance of SQS synostosis is currently unclear, and warrants further investigation into this phenomenon, its natural course, …
Optic Nerve Hypoplasia and Crouzon Syndrome.
Eves D, O'Connor SJ, Boyle MA. Eves D, et al. J Pediatr Ophthalmol Strabismus. 2018 Dec 19;55:e45-e48. doi: 10.3928/01913913-20181012-02. J Pediatr Ophthalmol Strabismus. 2018. PMID: 30571838
Genetic testing confirmed a molecular diagnosis of Crouzon syndrome. He had a complicated course in relation to choanal stenosis management, and was discharged home at 10 weeks of age. ...
Genetic testing confirmed a molecular diagnosis of Crouzon syndrome. He had a complicated course in relation to choanal stenosis mana …
Raised intracranial pressure in Crouzon syndrome: incidence, causes, and management.
Abu-Sittah GS, Jeelani O, Dunaway D, Hayward R. Abu-Sittah GS, et al. J Neurosurg Pediatr. 2016 Apr;17(4):469-75. doi: 10.3171/2015.6.PEDS15177. Epub 2015 Nov 27. J Neurosurg Pediatr. 2016. PMID: 26613275
CONCLUSIONS Although the incidence of raised ICP in CS is high, it did not occur in nearly 40% of children during the course of this study. The several possible causes of CS require different management and may vary from episode to episode. ...
CONCLUSIONS Although the incidence of raised ICP in CS is high, it did not occur in nearly 40% of children during the course of this …
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM, Kayserili H, Lüleci G. Nur BG, et al. Pediatr Neurol. 2014 May;50(5):482-90. doi: 10.1016/j.pediatrneurol.2014.01.023. Epub 2014 Jan 11. Pediatr Neurol. 2014. PMID: 24656465 Review.
Because this is the first molecular genetic report from a Turkish cohort, the identified spectrum profile of FGFR2 mutations of the syndromic craniosynostotic patients would be very helpful for understanding the genotype-phenotype relationship and has a great value for diagnosis, …
Because this is the first molecular genetic report from a Turkish cohort, the identified spectrum profile of FGFR2 mutations of the syndromi …
Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods.
Harada A, Miyashita S, Nagai R, Makino S, Murotsuki J. Harada A, et al. Congenit Anom (Kyoto). 2019 Jul;59(4):132-141. doi: 10.1111/cga.12308. Epub 2018 Sep 5. Congenit Anom (Kyoto). 2019. PMID: 30132994
The aim of the study was to explore the sonographic findings of fetuses with craniosynostosis and investigate their prognosis. We conducted a 5-year, multicenter retrospective study and collected data on patients with craniosynostosis diagnosed in the perinatal period. ...
The aim of the study was to explore the sonographic findings of fetuses with craniosynostosis and investigate their prognosis. We con …
Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant.
Raposo-Amaral CE, Oliveira YM, Denadai R, Raposo-Amaral CA, Ghizoni E. Raposo-Amaral CE, et al. Childs Nerv Syst. 2021 Jul;37(7):2391-2397. doi: 10.1007/s00381-020-04993-w. Epub 2021 Jan 6. Childs Nerv Syst. 2021. PMID: 33404724
An accurate genotype diagnosis is essential to distinguishing between these syndromes, as it provides predictors for neurosurgical complications and facilitates appropriate family counseling related to long-term outcomes....
An accurate genotype diagnosis is essential to distinguishing between these syndromes, as it provides predictors for neurosurgical co …
Prenatal diagnosis of Pfeiffer syndrome and role of three-dimensional ultrasound: case report and review of literature.
Vimercati A, Olivieri C, Dellino M, Gentile M, Tinelli R, Cicinelli E. Vimercati A, et al. J Matern Fetal Neonatal Med. 2022 Dec;35(25):7840-7843. doi: 10.1080/14767058.2021.1937984. Epub 2021 Jun 28. J Matern Fetal Neonatal Med. 2022. PMID: 34182859 Review.
Conversely, types 2 and 3 are more common and they are associated with more severe signs and complications with a more unfavorable prognosis. The type 3 form due to the presence of a cloverleaf skull distinguishes type 2.Materials and methods: Thirty-eight-year-old primigr …
Conversely, types 2 and 3 are more common and they are associated with more severe signs and complications with a more unfavorable progno …
An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome.
Fan J, Li Y, Jia R, Fan X. Fan J, et al. BMC Med Genet. 2018 May 30;19(1):91. doi: 10.1186/s12881-018-0607-8. BMC Med Genet. 2018. PMID: 29848297 Free PMC article.
A three-dimensional computer model was used to analyse the structural positioning of the mutation site that was predicted possible impact on functional of FGFR2 protein. Real-time PCR was performed to analyse the expression of bone maker gene. ...
A three-dimensional computer model was used to analyse the structural positioning of the mutation site that was predicted possible im …
83 results