Results 21 to 30 of about 2,286 (158)

Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report

open access: yesJournal of Medical Case Reports, 2019
Background Apert syndrome, Online Mendelian Inheritance in Man number 101200, is a rare genetic condition, with autosomal dominant inheritance, characterized by craniosynostosis, midfacial malformation, and severe symmetrical syndactyly.
Gara Samara Brajadenta   +4 more
doaj   +1 more source

Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome

open access: yesThe Turkish Journal of Pediatrics, 2017
Cranial sutures are unossified connective tissue structures between the cranial bones, which allow expansion of these bones during development. Premature ossification of these structures is called craniosynostosis.
Arda Çetinkaya   +7 more
doaj   +1 more source

Apert's Syndrome

open access: yesInternational Journal of Clinical Pediatric Dentistry, 2014
Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malforma-tion and symmetrical syndactyly of hands and feet. Craniofacial deformities include cone-shaped calvarium, fat forehead, prop-tosis, hypertelorism and short nose with a bulbous tip.
Kumar, Gudipaneni Ravi   +3 more
openaire   +2 more sources

MODERN VIEWS REGARDING THE ETIOPATHOGENESIS, DIAGNOSTIC, TREATMENT AND PREVENTION OF APERT SYNDROME

open access: yesМедична наука України, 2020
Relevance. Acrocephalosyndactyly – a group of syndromes of multiple congenital malformations (MCM), the main components of which are acrocephaly and syndactyly. The most common nosological form of this group is Apert syndrome.
V.V. Antsupva   +4 more
doaj   +1 more source

Three-Dimensional Evaluation of Dental Arches in Individuals with Syndromic Craniosynostosis

open access: yesInternational Journal of Dentistry, 2023
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

Apert syndrome: A rare anomalad

open access: yesCHRISMED Journal of Health and Research, 2014
Apert syndrome is a developmental malformation characterized by craniosynostosis, a cone shaped calvarium, midface hypoplasia, pharyngeal attenuation, ocular manifestations and syndactyly of the hands and feet.
Himanshi Aggarwal   +2 more
doaj   +1 more source

Fingers Matter: The Development of Strategies for Solving Arithmetic Problems in Children With Apert Syndrome

open access: yesFrontiers in Education, 2019
There is very little research on cognitive outcomes and challenges for children with Apert syndrome. This paper describes the findings of a 2½-year longitudinal exploration of the development of arithmetic skills in 10 children with Apert syndrome, who ...
Caroline Hilton
doaj   +1 more source

Apert Syndrome: A Case Report [PDF]

open access: yesIranian Journal of Neonatology, 2022
Background: Primary craniosynostosis is a form of premature fusion of the cranial sutures, which commonly occurs prenatally. The condition appears in both syndromic and nonsyndromic forms.Case report: The cause of most cases of primary craniosynostosis ...
Shahin Mafinejad   +3 more
doaj   +1 more source

[Apert syndrome].

open access: yesThe Pan African medical journal, 2013
The authors catalogued phenotypic variability among children with Apert syndrome, reviewed surgical outcomes (particularly with respect to their treatment goals of avoiding preventable developmental delays and reducing operative interventions), and examined correlations that might stimulate improved treatment paradigms.A case series review of all Apert
Sarra, Benmiloud   +3 more
  +6 more sources

Infrared venography of the hand in Apert syndrome

open access: yesIndian Journal of Plastic Surgery, 2013
As well as craniofacial synostosis, complex syndactyly of hands is a distinctive feature of Apert syndrome. Consideration of blood flow to the digits is very important in separation surgery.
Soh Nishimoto   +5 more
doaj   +1 more source

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