Results 91 to 100 of about 3,158 (217)

Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans

Molecular Genetics & Genomic Medicine, 2019
Background Craniosynostosis, or premature fusion of the skull sutures, is a group of disorders that can present in isolation (nonsyndromic) or be associated with other anomalies (syndromic).
Karen Rymer, Rita Shiang, Anting Hsiung, Arti Pandya, Tim Bigdeli, Bradley T. Webb, Jennifer Rhodes   +6 more
doaj   +1 more source

Radical Reconstruction of Complex Cranio-Orbito-Facial Abnormalities [PDF]

, 1974
Excellent cosmetic results can be obtained by early intervention in severe cranial-orbital-facial deformity. This intervention should take the form of a combined intracranial and extracranial approach.
Edgerton, Milton T., Jane, John A.
core   +1 more source

Changes to the cell, tissue and architecture levels in cranial suture synostosis reveal a problem of timing in bone development [PDF]

European Cells & Materials, 2012
Premature fusion of cranial sutures is a common problem with an incidence of 3-5 per 10,000 live births. Despite progress in understanding molecular/genetic factors affecting suture function, the complex process of premature fusion is still poorly ...
J Regelsberger, P Milovanovic, T Schmidt, M Hahn, EA Zimmermann, M Tsokos, J Zustin, RO Ritchie, M Amling, B Busse   +9 more
doaj  

Correction of maxillofacial deformities in a patient with unilateral coronal craniosynostosis (plagiocephaly): a case report and a review of literatures.

Frontiers in Dentistry, 2013
Plagiocephaly (oblique skull) is premature fusion of one of the coronal sutures. Frontal plagiocephaly is a rare congenital deformity in the skull that is the most complicated form of craniosynostosis to treat. Examination of all sutures is necessary for
Mansour Khorasani, Mohsen Hasani Barzi, Bahman Derakhshan   +2 more
doaj  

Calvarial osteoblast gene expression in patients with craniosynostosis leads to novel polygenic mouse model.

PLoS ONE, 2019
Craniosynostosis is the premature fusion of the sutures of the calvaria and is principally designated as being either syndromic (demonstrating characteristic extracranial malformations) or non-syndromic. While many forms of syndromic craniosynostosis are
Jonas A Gustafson, Sarah S Park, Michael L Cunningham   +2 more
doaj   +1 more source

Nonsyndromic multisuture craniosynostosis with unilateral coronal and lambdoid suture involvement

Interdisciplinary Neurosurgery
Background: Craniosynostosis results from the premature fusion of cranial sutures and represents a severe congenital craniofacial disorder. It may occur as part of a recognized genetic syndrome or as an isolated condition.
Vázquez Flores Jesús de Marco, Ramos Fraga Bernardo, Ferreira Ascencio Frida Leslie, López Hernández Paul André   +3 more
doaj   +1 more source

Metopic synostosis [PDF]

, 2012

core   +1 more source

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis [PDF]

, 2017
et al,, Grange, Dorothy K
core   +2 more sources

Craniossinostoses Importância Clínica e Implicações Funcionais [PDF]

, 2006
Introdução: A craniossinostose é uma condição patológica que resulta do encerramento precoce de uma ou várias suturas cranianas, podendo, para além da questão estética, levar ao aparecimento de complicações neurológicas, mais frequente quando existe
Cristovão, C, Dias, AI, Emílio, A, Matos, M, Soares, MR, Távora, L   +5 more
core  

Femoral-tibial-synostosis in a child with Roberts syndrome (Pseudothalidomide): a case report [PDF]

, 2008

core   +1 more source