Early Motor Development and Rehabilitation Outcomes in Apert Syndrome: Gross Motor Function Measures—Case Report [PDF]
PathophysiologyIntroduction: Apert syndrome is a rare genetic disorder characterized by craniofacial anomalies and limb malformations, often accompanied by neurodevelopmental abnormalities that can considerably affect motor development.
Lorena Oreščanin +2 more
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Multisuture and Syndromic Craniosynostoses: Simplifying the Complex.
J Pediatr Neurosci, 2022 Most complex craniosynostoses are managed the same way as syndromic craniosynostoses (SCs), as these patients often experience similar problems regarding cognition and increased intracranial pressure (ICP). The evaluation and treatment plan for craniosynostoses is complex, and this, additionally, is complicated by the age at presentation.
Udayakumaran S, Krishnadas A, Subash P.
europepmc +3 more sources
Neuroimaging in Nonsyndromic Craniosynostosis: Key Concepts to Unlock Innovation [PDF]
DiagnosticsCraniosynostoses (CRS) are caused by the premature fusion of one or more cranial sutures, with isolated nonsyndromic CRS accounting for most of the clinical manifestations. Such premature suture fusion impacts both skull and brain morphology and involves
Camilla Russo +20 more
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Crouzon syndrome and the eye: An overview [PDF]
Indian Journal of Ophthalmology, 2022 The current literature review aims to evaluate the ocular findings and associated ophthalmic features in Crouzon syndrome. Craniosynostoses are syndromes characterized by premature fusion of sutures of the skull and Crouzon syndrome is the most common of
Kasturi Bhattacharjee +7 more
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Dental Age, Agenesis, and Morphology in Patients With Operated Single-Suture Craniosynostoses [PDF]
Cleft Palate-Craniofacial Journal, 2021 Peer ...
Sami Leinonen +2 more
exaly +3 more sources
Occlusal characteristics and oral health-related quality of life in adults operated due to sagittal synostosis in childhood: a case-control study with 26 years of follow-up. [PDF]
Childs Nerv Syst, 2023 Purpose: The aim of this case–control study was to investigate occlusal characteristics, received orthodontic treatment, oral health-related quality of life (OHRQoL), and satisfaction with dental esthetics in adults operated due to sagittal synostosis ...
Julku J +5 more
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Pitfalls in counselling: the craniosynostoses. [PDF]
Journal of Medical Genetics, 1991 We describe three families to highlight the variability of expression and penetrance that can occur in the craniosynostoses. In two of the families, gene carriers were only identified in retrospect by looking at photographs of other family members.
R, Marini +4 more
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Craniosynostoses. A case presentation.
Medisur, 2008 A case of a three-month female infant who was born in an ectopic and institutional delivery is described. His parents are healthy and came to the consultation office due to an enlargement in the posterior part of the head.
Barbara Aleida García Hernández +2 more
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AI-based diagnosis and phenotype – Genotype correlations in syndromic craniosynostoses [PDF]
Journal of Cranio-Maxillo-Facial SurgeryApert (AS), Crouzon (CS), Muenke (MS), Pfeiffer (PS), and Saethre Chotzen (SCS) are among the most frequently diagnosed syndromic craniosynostoses. The aims of this study were (1) to train an innovative model using artificial intelligence (AI)–based ...
Quentin Hennocq +2 more
exaly +5 more sources
Oral findings in patients with Apert Syndrome Achados bucais em pacientes com Síndrome de Apert [PDF]
Journal of Applied Oral Science, 2006 INTRODUCTION: The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface ...
Gisele da Silva Dalben +2 more
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