This article reviews the presentation of children with craniofacial anomalies by the most common sites of airway obstruction. Major craniofacial anomalies may be categorized into those with midface hypoplasia, mandible hypoplasia, combined midface and mandible hypoplasia, and midline deformities. Algorithms of airway interventions are provided to guide the initial management of these complex patients.
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http://dx.doi.org/10.1016/j.fsc.2016.06.002 | DOI Listing |
PLoS One
January 2025
Ionis Pharmaceuticals, Inc., Carlsbad, CA, United States of America.
Lateral Meningocele Syndrome (LMS), a disorder associated with NOTCH3 pathogenic variants, presents with neurological, craniofacial and skeletal abnormalities. Mouse models of the disease exhibit osteopenia that is ameliorated by the administration of Notch3 antisense oligonucleotides (ASO) targeting either Notch3 or the Notch3 mutation. To determine the consequences of LMS pathogenic variants in human cells and whether they can be targeted by ASOs, induced pluripotent NCRM1 and NCRM5 stem (iPS) cells harboring a NOTCH36692-93insC insertion were created.
View Article and Find Full Text PDFOdontology
January 2025
Department of Pediatric Dentistry, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil.
This study aimed to compare the dimensional alterations of the dental arches and the palate symmetry in patients with unilateral complete cleft lip and palate before and after the performance of primary surgeries by different surgical techniques. The sample was divided into Group 1, G1 - cheiloplasty (Millard technique) and single-stage palatoplasty (von Langenbeck technique); Group 2, G2 - cheiloplasty (Millard technique) and two-stage palatoplasty (Hans Pichler and Sommerlad techniques). The digital dental models were evaluated before (Time 1, T1) and after (Time 2, T2) primary surgeries.
View Article and Find Full Text PDFPrenat Diagn
January 2025
Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Objective: To investigate the exome sequencing (ES) detection rate among fetuses with congenital anomalies and describe the rates in the setting of multiple versus isolated anomalies, perinatal autopsy, and family history of a previously affected child.
Methods: A single-center retrospective chart review was conducted on 397 anomalous fetuses that underwent ES from May 2012 through December 2023. Medical record review included demographics, imaging, and genetic testing.
Neurosurg Focus
January 2025
3ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Objective: Craniofacial clefts, characterized by congenital disruptions in the development of facial and cranial tissues, often present alongside orbital hypertelorism (ORH), an abnormal increase in the interorbital distance. These conditions pose significant challenges in craniofacial surgery due to the complex anatomical and functional considerations involved. This single-center cohort study retrospectively analyzed 22 patients diagnosed with craniofacial cleft syndromes and ORH who were treated at the Craniofacial Centre, Fatima Plastic and Reconstructive Surgery Hospital between July 2016 and October 2023.
View Article and Find Full Text PDFNeurosurg Focus
January 2025
18Department of Neurosurgery, Washington University School of Medicine, St. Louis, Missouri.
Objective: Patients with a history of surgery for single-suture craniosynostosis (SSC) as an infant often wish to participate in sports later in childhood. However, there are no established guidelines from neurosurgeons and craniofacial surgeons to guide parents in which sports their child should or should not participate. Therefore, this study aimed to evaluate the attitudes and practice patterns of experienced neurosurgeons and craniofacial surgeons regarding the counseling of caregivers of these patients about sports participation.
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