Treatment timing and multidisciplinary approach in Apert syndrome [PDF]
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 +6 more
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Manajemen Anestesi untuk Tindakan Vp-Shunt pada Bayi Sindrom Crouzon dengan Hidrosefalus
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 +2 more
doaj +1 more source
Highlights: • Severe Constricted Head in Crouzon Syndrome. • Complex surgical interventions to address severe craniofacial abnormalities in Crouzon syndrome.
Ciptomurti Lupitasari +2 more
doaj +1 more source
Bilateral congenital cholesteatoma of the temporal bone in Crouzon syndrome [PDF]
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 +2 more
doaj +1 more source
Estimation of independent non-linear deformation modes for analysis of craniofacial malformations in crouzon mice [PDF]
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 +11 more
core +1 more source
Three-Dimensional Evaluation of Dental Arches in Individuals with Syndromic Craniosynostosis
Objective. Individuals with syndromic craniosynostosis present alterations in the dental arches due to anomalies caused by the early fusion of the craniomaxillary sutures.
Rayane de Oliveira Pinto +5 more
doaj +1 more source
Ectrodactyly and lethal pulmonary acinar dysplasia associated with homozygous FGFR2 mutations identified by exome sequencing [PDF]
First published: 11 July 2016Abstract not availableChristopher P. Barnett, Nathalie J. Nataren, Manuela Klingler-Hoffmann, Quenten Schwarz, Chan-Eng Chong, Young K. Lee, Damien L. Bruno, Jill Lipsett, Andrew J. McPhee, Andreas W. Schreiber, Jinghua Feng,
Barnett, C. +12 more
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A Case of Crouzon's Syndrome with a True Human Tail
A human tail complicated by Crouzon syndrome is extremely rare, with only eight reported cases of human tails associated with Crouzon syndrome. A human tail is defined as a true human tail or a pseudo-human tail according to the presence or absence of ...
Nobuhiro Ando +4 more
doaj
Crouzon syndrome with primary optic nerve atrophy and normal brain functions: A case report
Background: This report and review of literature aimed to assess an unusual case of Crouzon syndrome characterized by distinctive disfigurement of craniofacial skeletal and soft tissue structures with primary optic nerve atropy.
Uma Shankar Pal +2 more
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An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome
Background FGFR2 encodes a fibroblast growth factor receptor whose mutations are responsible for the Crouzon syndrome, involving craniosynostosis and facial dysostosis with shallow orbits. However, few reports are available quantifying the orbital volume
Jiayan Fan +3 more
doaj +1 more source

