Results 91 to 100 of about 2,768 (208)

Crouzon Syndrome-A Case Report

Journal of Indian Academy of Oral Medicine and Radiology
Crouzon syndrome is a hereditary condition with an autosomal dominant pattern, characterized by the premature synostosis of coronal and sagittal sutures.
Malarmathi Eswaramoorthy, G. V. Murali Gopika Manoharan   +1 more
doaj   +1 more source

Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse.

PLoS ONE, 2019
Mutations in EFTUD2 are responsible for the autosomal dominant syndrome named MFDM (mandibulofacial dysostosis with microcephaly). However, it is not clear how reduced levels of EFTUD2 cause abnormalities associated with this syndrome.
Marie-Claude Beauchamp, Anissa Djedid, Kevin Daupin, Kayla Clokie, Shruti Kumar, Jacek Majewski, Loydie Anne Jerome-Majewska   +6 more
doaj   +1 more source

The roles of RNA Polymerase I and III subunits Polr1a, Polr1c, and Polr1d in craniofacial development [PDF]

, 2016
Craniofacial anomalies account for approximately one-third of all birth defects. Two examples of syndromes associated with craniofacial malformations are Treacher Collins syndrome and Acrofacial Dysostosis, Cincinnati type which have phenotypic overlap ...
Watt, Kristin
core  

Butterfly Vertebrae: A Systematic Review of the Literature and Analysis

Global Spine Journal, 2019
Study Design: Systematic review (Level 4) Objective: To summarize the demographics, clinical presentations, and conditions associated with butterfly vertebrae. Methods: A systematic search was performed of multiple databases. A total of 279 articles were
Yoshihiro Katsuura MD, Han Jo Kim MD
doaj   +1 more source

3D computer-aided single stage correction of Crouzon related craniofacial and occlusal deformities: A case series of three adult patients

Oral and Maxillofacial Surgery Cases
Background: Single-stage surgical correction of Crouzon syndrome aims to remodel the cranial vault to achieve a morphology approaching age-matched norms.
Hossam Hassan Fawzy, Hesham Abo Rahma, Moaz Elsheikh, Mohamed Abdalla Elnahas, Khaled Adel Eid, Yasser Elsheikh   +5 more
doaj   +1 more source

Critical review of microfixation in pediatric craniofacial surgery.

, 1995
The migration or passive intracranial translocation of microplates and screws in the pediatric craniofacial patient has been reported. A retrospective review was undertaken to clarify the incidence of microplate translocation and identify potential ...
Yu, J C, Hunter, J V, Whitaker, L A, Bartlett, S, Goldberg, D S   +4 more
core  

Optimal Diagnostic and Treatment Practices for Facial Dysostosis Syndromes:A Clinical Consensus Statement Among European Experts [PDF]

Facial dysostosis syndromes (FDS) are rare congenital conditions impacting facial development, often leading to diverse craniofacial abnormalities. This study addresses the scarcity of evidence on these syndromes about optimal diagnostic and treatment ...
Van Roey, Victor L.; id_orcid, Irvine, Willemijn F.E.   +1 more
core   +1 more source

Evolution of a child with Treacher Collins syndrome undergoing physiotherapeutic treatment

Fisioterapia em Movimento
Introduction Treacher Collins syndrome, or mandibulofacial dysostosis, is a hereditary disorder and is manifested by craniofacial malformations. The incidence is close to one case per 40,000 live births, without relation to gender or race.
Bárbara Gabriela da S. Rodrigues, Juliane Leonardo Oliveira Silva, Pryscilla Gualberto Guimarães, Cibelle Kayenne Martins Roberto Formiga, Fabiana Pavan Viana   +4 more
doaj   +1 more source

Mandibulofacial dysostosis. description of rare case study

, 2018
У статті проаналізований випадок пацієнта віком 7 років, який народився із нижньощелепно-лицевим дизостозом. Під час збору анамнезу було з’ясовані особливості перебігу вагітності: антибіотико-терапія на п’ятому тижні вагітності, носій Torch, багатоводдя,
Дмитренко, Марина Іванівна, Дмитренко, Марина Ивановна, Dmytrenko, M. I.   +2 more
core   +1 more source

Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family. [PDF]

Mol Syndromol, 2017
Graul-Neumann LM, Klopocki E, Adolphs N, Mensah MA, Kress W.   +4 more
europepmc   +1 more source