Results 21 to 30 of about 5,138 (198)

Treatment timing and multidisciplinary approach in Apert syndrome [PDF]

, 2015
Apert syndrome is a rare congenital disorder characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly of hands and feet. Abnormalities associated with Apert syndrome include premature fusion of coronal sutures system (coronal ...
CAPORLINGUA, ALESSANDRO, DI GIORGIO, GIANNI, FADDA, Maria Teresa, IERARDO, GAETANO, LADNIAK, BARBARA, RAPONI, INGRID, SILVESTRI, ALESSANDRO   +6 more
core   +2 more sources

Anomalous extraocular muscles in Crouzon syndrome with V-pattern exotropia

Indian Journal of Ophthalmology, 2020
Strabismus associated with Crouzon syndrome is common and often complex. V-pattern strabismus is most commonly reported in this condition and is mainly thought to be due to an excyclorotation of the orbits and rectus muscle pulleys.
Seung Ah Chung, Seung Yeop Lee
doaj   +1 more source

The Crouzan Syndrome-A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2013
The Crouzon syndrome is a genetic disorder which is known as the brachial arch syndrome. It is an autosomal dominant disorder which is one of a rare group of syndromes which is characterized by cranio synostosis or a premature closing of the cranial ...
Manu Prasad, Ashwini S. Shetty, Manjula Shantaram   +2 more
doaj   +1 more source

FGFR2 Mutation p.Cys342Arg Enhances Mitochondrial Metabolism-Mediated Osteogenesis via FGF/FGFR-AMPK-Erk1/2 Axis in Crouzon Syndrome

Cells, 2022
Background: Crouzon syndrome ([OMIM] #123500) caused by FGFR2 mutation is an autosomal dominant syndrome with craniosynostosis, the underlying mechanism of which remains obscure.
Yidi Wang, Yue Liu, Haotian Chen, Xiaojing Liu, Yi Zhang, Yixiang Wang, Yan Gu   +6 more
doaj   +1 more source

Estimation of independent non-linear deformation modes for analysis of craniofacial malformations in crouzon mice [PDF]

, 2007
Crouzon syndrome is a genetic disease resulting in premature fusion of cranial sutures and synchondroses causing craniosynostosis. A decade ago the Crouzon gene was discovered, and recently the first mouse model of the syndrome was generated.
Darvann, Tron Andre, Ersbøll, Bjarne Kjær, Frangi, Alejandro F., Hansen, Michael Sass, Hermann, Nuno V., Kreiborg, Sven, Larsen, Per, Larsen, Rasmus, Morris-Kay, Gillian M., Olafsdóttir, Hildur, Oubel, Estanio, Perlyn, Chad A.   +11 more
core   +1 more source

Manajemen Anestesi untuk Tindakan Vp-Shunt pada Bayi Sindrom Crouzon dengan Hidrosefalus

Jurnal Neuroanestesi Indonesia, 2019
Sindrom Crouzon adalah sindrom dominan autosom yang ditandai dengan  trias yaitu deformitas tengkorak, anomali wajah, dan eksoftalmus. Sindrom Crouzon memiliki prevalensi 1: 60.000 kelahiran.
Chrismas Gideon Bangun, Rose Mafiana, Syafruddin Gaus   +2 more
doaj   +1 more source

Síndrome Crouzon em um paciente de Angola: caso clínico

RevSALUS, 2022
Introdução: Síndrome Crouzon é uma enfermidade autossômica dominante caracterizada por craniossinostoses causando alterações secundárias dos ossos da face e demais estruturas faciais.
Fernando Alberto Quilezi, Roberto Lardoyet Ferrer, Bárbara Tchissola Sanjulo da Rocha Quilezi, Lucía Leonor Ayllón Valdés   +3 more
doaj   +1 more source

Bilateral congenital cholesteatoma of the temporal bone in Crouzon syndrome [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2015
Introduction. Crouzon syndrome is an autosomal dominant genetic disease characterized by bicoronal craniosynostosis, exorbitism with hypertelorism, and maxillary hypoplasia with mandibular prognathism. Case Outline. We present the first reported
Đerić Dragoslava, Čvorović Ljiljana, Blažić Srbislav   +2 more
doaj   +1 more source

Crouzon Syndrome: a Comprehensive Review

Balkan Journal of Dental Medicine, 2018
Crouzon syndrome is a rare genetic disorder with autosomal dominant inheritance. The underlying pathological process is premature synostosis of the cranial sutures with subsequent phenotypic alterations of the affected person.
Kyprianou Chrystalla, Chatzigianni Athina   +1 more
doaj   +1 more source

A unique case of prenatal diagnosis of vascular Ehlers-Danlos syndrome. [PDF]

Int J Gynaecol Obstet
Abstract We present a rare instance of prenatal diagnosis of vEDS without a family history. The suspicion of a genetic syndrome arose from an incidental ultrasound finding of a facial anomaly—previously associated with vEDS in adulthood but never described prenatally.
Bertucci E, Ceffa S, Giovanna S, Gnazzo M, Novelli A, La Marca A.   +5 more
europepmc   +2 more sources