Results 111 to 120 of about 2,319 (218)

Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation

, 2005
Fibroblast growth factor receptor 2 (FGFR2) mutations are associated with syndromic and non-syndromic craniosynostoses. More recently it has been recognized that FGFR2 may have a role in the development of the anterior chamber of the eye following the ...
Ellis, Ian H., Emma McCann, Ian H. Ellis, Black, Graeme C M, Stephen B. Kaye, William Newman, Newman, William; id_orcid, McCann, Emma, Norbury, Gail, Graeme C.M. Black, Kaye, Stephen B., Gail Norbury   +11 more
core   +1 more source

Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?

, 2015
We report on two patients with an unusual combination of achondroplasia and surgically treated sagittal synostosis and scaphocephaly. The most common achondroplasia mutation, p.Gly380Arg in fibroblast growth factor receptor 3 (FGFR3), was detected in ...
Accogli, Andrea, Nuzzi, Daniele, Pietro Fiaschi, Marco Pavanello, Pavanello, Marco, Piatelli, Gianluca, Mattia Pacetti, Capra, Valeria, Maurizia Baldi, Fiaschi, Pietro, Allegri, Anna, Valeria Capra, Gianluca Piatelli, Maria Savina Severino, Pacetti, Mattia, Severino, Maria Savina, Baldi, Maurizia, Elisa Tassano, Tassano, Elisa, Anna Allegri, Daniele Nuzzi, Andrea Accogli   +21 more
core   +1 more source

Postoperative raised ICP after minimally invasive surgery for monosutural craniosynostosis. [PDF]

Childs Nerv Syst
Martinelli R, Cusumano M, Tamburrini G, Massimi L.   +3 more
europepmc   +1 more source

Renier H-cranioplasty Modifies Skull Shape More Than Total Vault Remodeling in Nonsyndromic Scaphocephaly: Artificial Intelligence-based Study. [PDF]

Plast Reconstr Surg Glob Open
Bibas S, Hennocq Q, Kogane N, Bongibault T, Bénichou L, Lienhard O, Arnaud E, Paternoster G, Garcelon N, Khonsari RH.   +9 more
europepmc   +1 more source

Case Report: Three-dimensional characteristics of craniofacial morphology in facial asymmetry due to unilateral coronal synostosis. [PDF]

Front Dent Med
Fukunaga T, Shigemi S, Konno M, Uechi J, Yoshizawa M, Kishikawa A, Imai Y, Kitaura H, Mizoguchi I.   +8 more
europepmc   +1 more source

Prevalence of motor development delay in children with craniosynostosis: a systematic review and meta-analysis. [PDF]

Eur J Pediatr
de Souza VG, Santos MS, Panno L, Dos Santos Soares F, Bertolini GRF, de Fátima Chasko Ribeiro L.   +5 more
europepmc   +1 more source

Surgery for isolated sagittal synostosis: a neuro-developmental necessity or an isolated cosmetic challenge? Mini-survey and literature review. [PDF]

Childs Nerv Syst
Soleman J, Tamburrini G, Roth J, Constantini S.   +3 more
europepmc   +1 more source

The Utility of Artificial Intelligence for Systematic Reviews and Boolean Query Formulation and Translation. [PDF]

Plast Reconstr Surg Glob Open, 2023
Alaniz L, Vu C, Pfaff MJ.
europepmc   +1 more source

Cranial nerves involvement in craniosynostosis: a systematic review. [PDF]

Childs Nerv Syst
Manara R, Tietze A, Faggin R, Valeggia S, Tarnow P, Trevisi P, De Filippis C, Mathijssen IMJ, Brotto D.   +8 more
europepmc   +1 more source

Trends and insights in non-syndromic craniosynostosis research globally: a bibliometric analysis of the Web of Science database (2005-2024). [PDF]

Transl Pediatr
Chen S, Liu W, Yang R, Kong L, Shen W.
europepmc   +1 more source