Results 51 to 60 of about 5,130 (182)

Crouzon′s syndrome: A review of literature and case report

Contemporary Clinical Dentistry, 2011
Crouzon′s syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder.
Vivek Padmanabhan, Amitha M Hegde, Kavita Rai   +2 more
doaj   +1 more source

FGF2 promotes Msx2 stimulated PC‐1 expression via Frs2/MAPK signaling [PDF]

, 2010
PC‐1 is an enzymatic generator of pyrophosphate and a critical regulator of tissue mineralization. We previously showed that fibroblast growth factor‐2 (FGF2) specifically induces PC‐1 expression in calvarial pre‐osteoblasts and that this occurs via a ...
Hatch, Nan E., Hudson, Mark, Kim, Sungsu, Li, Yan, Liu, Jin   +4 more
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Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five‐generation family

Molecular Genetics & Genomic Medicine, 2022
Objective Craniosynostosis is the result of the early fusion of cranial sutures. Syndromic craniosynostosis includes but not limited by Crouzon syndrome and Pfeiffer syndrome.
Xianda Wei, Guori Huang, Baoheng Gui, Bobo Xie, Shaoke Chen, Xin Fan, Yujun Chen   +6 more
doaj   +1 more source

Electrocardiographic variables in children with syndromic craniosynostosis and primary snoring to mild obstructive sleep apnea [PDF]

, 2018
Background: In the spectrum of children with symptomatic sleep disordered breathing (SDB), some individuals – such as those with upper airway resistance syndrome (UARS) – do not have abnormalities on polysomnography (PSG).
Corel, L.J.A. (Linda), Goederen, R. (Robbin) de, Joosten, K.F.M. (Koen), Kakar, E. (Ellaha), Mathijssen, I.M.J. (Irene), Tasker, R.C. (Robert), Wolvius, E.B. (Eppo)   +6 more
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Orthognathic Surgical Outcomes in Patients With and Without Craniofacial Anomalies [PDF]

, 2018
Purpose The objective of this study is to examine hospitalization outcomes after orthognathic surgery. This study tests the hypothesis that patients with craniofacial anomalies have higher billed hospital charges, longer lengths of stay, and increased ...
Allareddy, Veerasathpurush, Fletcher, Steven, Metalwala, Zohra, Okunseri, Christopher   +3 more
core   +1 more source

GERMLINE GAIN-OF-FUNCTION MUTATIONS of ALK DISRUPT CENTRAL NERVOUS SYSTEM DEVELOPMENT [PDF]

, 2011
International audienceNeuroblastoma (NB) is a frequent embryonal tumour of sympathetic ganglia and adrenals with extremely variable outcome. Recently, somatic amplification and gain-of-function mutations of the anaplastic lymphoma receptor tyrosine ...
Amiel, Jeanne, Balu, Laurent, Boddaert, Nathalie, Brugière, Laurence, De Pontual, Loic, Delattre, Olivier, Etchevers, Heather C, Gordon, Chris, Janouex Larosey, Isabelle, Kettaneh, Dania, Lachassinne, Eric, Less, Melissa, Lyonnet, Stanislas, Mollet, Julie, Munnich, Arnold, Oufadem, Myriam, Petros, Andy, VEKEMANS, Michel, Wilson, LC   +18 more
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Relationships between cranial base synchondroses and craniofacial development: a review [PDF]

, 2010
: Synchondrosis is defined as the development of a union between two bones by the formation of either hyaline cartilage or fibro-cartilage. This paper reviews the relationship between cranial base synchondroses and craniofacial development.
Cendekiawan, T, Rabie, ABM, Wong, RWK
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The Relationship between Brachycephalic Head Features in Modern Persian Cats and Dysmorphologies of the Skull and Internal Hydrocephalus [PDF]

, 2017
Background: Cat breeders observed a frequent occurrence of internal hydrocephalus in Persian cats with extreme brachycephalic head morphology. Objective: To investigate a possible relationship among the grade of brachycephaly, ventricular dilatation ...
Enderlein, S., Failing, K., Fischer, A., Gorgas, D., Kampschulte, M., Lang, J., Ludewig, E., Meyer-Lindenberg, A., Ondreka, N., Schaubmar, A. R., Schmidt, M. J.   +10 more
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Anesthesia challenges in a case of Crouzon syndrome for corrective rigid external distraction frame insertion

The Indian Anaesthetists' Forum, 2019
Crouzon syndrome is an autosomal dominant disease occurs in approximately 1 in 25,000 births, due to a mutation in the fibroblast growth factor receptor 2 gene on chromosome 10 characterized by craniosynostosis, mid-face hypoplasia, hypertelorism, high ...
Veena Ganeriwal, Paulomi Dey, Baburao Gore, Tejesh Hujare   +3 more
doaj   +1 more source

Diagnostic value of exome and whole genome sequencing in craniosynostosis [PDF]

, 2017
Background Craniosynostosis, the premature fusion of one or more cranial sutures, occurs in ~1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 genes have been associated with craniosynostosis, but only a minority of
Abid, N. (Noina), Cilliers, D. (Deirdre), Craft, J. (Judith), Fenwick, A.L. (Aimée), Goos, J.A.C. (Jacqueline), Hurst, J.A. (Jane), Johnson, D. (David), Lester, K.J. (Kathryn), Lord, H. (Helen), Mathijssen, I.M.J. (Irene), McGowan, S.J. (Simon), Miller, K.A. (Kerry A.), Morton, J. (Jenny), Noons, P. (Peter), Phipps, J.M. (Julie), Rees, K.E.M. (Katie E.M.), Spek, P.J. (Peter) van der, Swagemakers, S.M.A. (Sigrid), Sweeney, E. (Elizabeth), Taylor, J. (John), Taylor, J.C. (Jenny C.), Tidey, E.A. (Elizabeth A.), Twigg, S.R.F. (Stephen), Wall, S.A. (Steven), Weber, A. (Astrid), Wilkie, A.O.M. (Andrew), Wilson, L.C. (Louise)   +26 more
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