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The oral and maxillofacial manifestations of Stickler syndrome: A systematic review.
J Stomatol Oral Maxillofac Surg
January 2025
Service de Chirurgie Maxillo-Faciale et Stomatologie, Oral and Maxillofacial Surgery Department, Université de Lille, Hôpital Roger Salengro - CHU Lille, Rue Emile Laine, Lille 59037 CEDEX, France; Controlled Drug Delivery Systems and Biomaterials, Université de Lille, INSERM, CHU Lille, U1008, Lille, France.
Introduction: Stickler syndrome is a rare genetic collagen disorder known for its ophthalmological abnormalities. However, there are several other associated facial features. The aim of this study is to review the literature on the various oral and maxillofacial manifestations of Stickler syndrome.
View Article and Find Full Text PDFCraniofacial development gives rise to the complex structures of the face and involves the interplay of diverse cell types. Despite its importance, our understanding of human-specific craniofacial developmental mechanisms and their genetic underpinnings remains limited. Here, we present a comprehensive single-nucleus RNA sequencing (snRNA-seq) atlas of human craniofacial development from craniofacial tissues of 24 embryos that span six key time points during the embryonic period (4-8 post-conception weeks).
View Article and Find Full Text PDFRare variants in cause Van der Woude syndrome and other features of peridermopathy.
medRxiv
January 2025
Department of Human Genetics, Emory University, Atlanta, GA, USA.
Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by lower lip pits and orofacial clefts (OFCs). With a prevalence of approximately 1 in 35,000 live births, it is the most common form of syndromic clefting and may account for ~2% of all OFCs. The majority of VWS is attributed to genetic variants in (~70%) or (~5%), leaving up to 25% of individuals with VWS without a molecular diagnosis.
View Article and Find Full Text PDFOrofacial cleft research in Nigeria: a bibliometric analysis.
Sudan J Paediatr
January 2024
Faculty of Dentistry, University of Puthisastra, Phnom Penh, Cambodia.
Orofacial cleft (OC) is a group of heterogeneous congenital abnormalities affecting the orofacial region. All over the world, several studies have been conducted on OC. This study aims to analyze OC research outputs in Nigeria.
View Article and Find Full Text PDFPrevalence and Correlation of Lip Shapes and Arch Forms in Primary Dentition of Children between 3-6 Years of Age: A Cross-sectional Study.
Int J Clin Pediatr Dent
December 2024
Department of Prosthodontics, Crown & Bridge and Implantology, Government College of Dentistry, Indore, Madhya Pradesh, India.
Aims And Background: The study of the morphology of soft tissues as well as hard tissues of the orofacial region holds prime importance. A very less information is known about the lips (soft tissues) and maxillo-mandibular arches (hard tissue structures) in primary dentition. Henceforth, there is a need to classify, find the prevalence and correlation of various lip shapes, and arch forms in primary dentition.
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