Aberrantly activated Wnt/β‐catenin pathway co‐receptors LRP5 and LRP6 regulate osteoblast differentiation in the developing coronal sutures of an Apert syndrome (Fgfr2S252W/+) mouse model
Sign Up to like & getrecommendations! Published in 2020 at "Developmental Dynamics"
DOI: 10.1002/dvdy.239
Abstract: Apert syndrome is an autosomal, dominant inherited disorder characterized by craniosynostosis and syndactyly caused by gain‐of‐function mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. Wnt/β‐catenin signaling plays critical roles in regulating the skeletal… read more here.
Keywords: model; apert syndrome; fgfr2s252w; developing coronal ... See more keywords
Processes and patterns: Insights on cranial covariation from an Apert syndrome mouse model
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DOI: 10.1002/dvdy.498
Abstract: Major cell‐to‐cell signaling pathways, such as the fibroblast growth factors and their four receptors (FGF/FGFR), are conserved across a variety of animal forms. FGF/FGFRs are necessary to produce several “vertebrate‐specific” structures, including the vertebrate head.… read more here.
Keywords: s252w mutation; apert syndrome; processes patterns; mouse ... See more keywords
Research advances in Apert syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of oral biology and craniofacial research"
DOI: 10.1016/j.jobcr.2017.05.006
Abstract: Apert syndrome is one of the several genetic syndromes associated with craniosynostosis, a condition that includes premature fusion of one or multiple cranial sutures. There has been significant clinical variation among different sutural synostoses and… read more here.
Keywords: research; research advances; advances apert; biology ... See more keywords
Spatial and temporal changes of midface in Apert’s syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Plastic Surgery and Hand Surgery"
DOI: 10.1080/2000656x.2018.1541324
Abstract: Abstract The dysplastic maxilla and retracted zygoma characterize Apert’s syndrome. The relationship between the cranial base and facial development is believed to be influential and substantial. The purpose of this study is to explore the… read more here.
Keywords: changes midface; midface apert; temporal changes; spatial temporal ... See more keywords
Apert syndrome with congenital diaphragmatic hernia: another case report and review of the literature
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DOI: 10.1097/mcd.0000000000000261
Abstract: Introduction Apert syndrome (MIM 101200), first described by a French physician Eugene Apert in 1906 (DeGiovanni et al., 2007), is a rare autosomal dominant acrocephalosyndactyly syndrome type 1 with a birth prevalence of one in… read more here.
Keywords: diaphragmatic hernia; congenital diaphragmatic; apert syndrome; syndrome congenital ... See more keywords
Distraction Lengthening of the Apert Thumb
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DOI: 10.1097/prs.0000000000008929
Abstract: Background: The thumbs of patients with Apert syndrome are characteristically short and radially deviated, contributing to functional hand impairment. The authors report a two-staged technique for distraction lengthening of the Apert thumb using a robust… read more here.
Keywords: apert syndrome; lengthening apert; distraction; distraction lengthening ... See more keywords
Morphological Basis for Airway Surgical Intervention in Apert Syndrome.
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DOI: 10.1097/sap.0000000000002601
Abstract: OBJECTIVE Previous studies have explored the restricted nasopharyngeal airway in Apert syndrome patients. This study aims to investigate the segmented airway volume changes with age and directly analyze their correlations with subcranial dimensions and angulations.… read more here.
Keywords: syndrome patients; surgical intervention; airway volume; apert syndrome ... See more keywords
Apert syndrome: prenatal diagnosis challenge
Sign Up to like & getrecommendations! Published in 2019 at "BMJ Case Reports"
DOI: 10.1136/bcr-2019-231982
Abstract: Apert syndrome is a rare genetic disorder that manifests as craniosynostosis, craniofacial and limb dysmorphic features. Mutations in fibroblast growth factor receptor 2 (FGFR2) gene account for almost all cases. Given the impact it can… read more here.
Keywords: syndrome prenatal; diagnosis; prenatal diagnosis; apert syndrome ... See more keywords
Apert syndrome: an informative long-term dentofacial outcome
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DOI: 10.1136/bcr-2021-245224
Abstract: The management of patients with Apert syndrome (AS) is complex and reflects the multisystem disease as a result of premature fusion of cranial vault, cranial base and midface sutures as well as extremity anomalies characterised… read more here.
Keywords: long term; apert syndrome; syndrome informative; treatment ... See more keywords
Ruptured Sinus of Valsalva Aneurysm in Apert Syndrome: Case report
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Community Hospital Internal Medicine Perspectives"
DOI: 10.55729/2000-9666.1013
Abstract: Background Sinus of Valsalva aneurysm (SOVA) is a rare anomaly of the aorta that can be congenital or acquired. It can be associated with syndromes such as Marfan syndrome and Ehlers-Danlos syndrome. However, to our… read more here.
Keywords: apert syndrome; valsalva aneurysm; case; sinus valsalva ... See more keywords