Results 51 to 60 of about 28,866 (195)
Case Reports in Dentistry, 2022 In this case study, the dental and maxillofacial manifestations of a 5-year-old girl with Axenfeld–Rieger syndrome (ARS) are described. This syndrome is characterized by craniomaxillofacial, ocular, dental, and umbilical disorders.
Carlos-Martín Ardila +1 more
doaj +1 more source
Control of craniofacial development by the collagen receptor, discoidin domain receptor 2
eLife, 2023 Development of the craniofacial skeleton requires interactions between progenitor cells and the collagen-rich extracellular matrix (ECM). The mediators of these interactions are not well-defined.
Fatma F Mohamed +10 more
doaj +1 more source
Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management
Otolaryngology–Head and Neck Surgery, Volume 175, Issue 5, Page 965-976, November 2026.Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley +1 more source
Apert syndrome: A rare anomalad
CHRISMED 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
Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border
Clinical Genetics, Volume 110, Issue 5, Page 627-636, November 2026.Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart +17 more
wiley +1 more source
Tracheobronchial Tree Ossification in a 5-Year-Old Boy with Keutel Syndrome: A Case Report
Journal of Tehran University Heart Center, 2022 Keutel syndrome (KS) as a scarce autosomal recessive disorder is characterized by hearing loss, multiple peripheral pulmonary stenoses, abnormal cartilage calcification, and morphological defects including midface hypoplasia and brachytelephalangism. We
Reza Shabanian +3 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Anesthetic management of craniosynostosis repair in patient with Apert syndrome
Saudi Journal of Anaesthesia, 2014 Apert syndrome is an autosomal dominant disease characterized by craniosynostosis, midface hypoplasia and syndactyly. In general, patients present in early childhood for craniofacial reconstruction surgery.
Niraj Kumar +3 more
doaj +1 more source
Keutel syndrome in a patient presenting with hearing loss
B-ENT, 2010 Keutel syndrome in a patient presenting with hearing loss. Keutel syndrome (KS) is a rare autosomal recessive disease which is mainly characterised by abnormal cartilage calcification, peripheral pulmonary artery stenosis, sensorineural and conductive ...
G. Ö. Acar +3 more
doaj +2 more sources