Orofacial clefts, including cleft palates (CP), are one of the most common birth defects. CP have a multiplicity of effects on the individual and society in terms of economic costs, loss of productivity, psychosocial effects, and increased morbidity and mortality at all stages of life. Embryological development of the palate is well delineated, with developments in the last decade regarding the biomolecular processes involved. Etiology is complex, involving a number of genetic and environmental factors. Various techniques can be employed for the repair of CP, depending on whether the cleft is of the primary or secondary palate, the width of the cleft, whether lengthening of the palate is necessary, and with regard to concerns of disruption of midfacial growth. All surgical techniques have the goals of restoring functional speech, swallowing, and aesthetics. A multidisciplinary team is necessary for the long-term pre- and postoperative care of CP patients to handle complications, associated anomalies, and to optimize function and quality of life.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1002/bdrc.21083 | DOI Listing |
Cell Death Discov
January 2025
Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA, 02129, USA.
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome is a rare genetic disorder caused by mutations in the TP63 gene, which encodes a transcription factor essential for epidermal gene expression. A key feature of AEC syndrome is chronic skin erosion, for which no effective treatment currently exists. Our previous studies demonstrated that mutations associated with AEC syndrome lead to p63 protein misfolding and aggregation, exerting a dominant-negative effect.
View Article and Find Full Text PDFJ Clin Med
January 2025
Department of Oral and Maxillofacial Surgery, University Hospital of Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.
: Defects in maxillary and mandibular continuity are common in maxillofacial practice. They can occur after trauma, osteonecrosis, congenital jaw deformities, or surgical resection of benign or malignant tumours. Reconstruction with microvascular bone flaps and subsequent prosthetic rehabilitation is considered the contemporary first line treatment.
View Article and Find Full Text PDFDiagnostics (Basel)
January 2025
Department of Dentistry, Faculty of Dentistry, "Vasile Goldiș" Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, Romania.
This is a fatal case of multiple complicated congenital anomalies displaying several symptoms consistent with hydrolethalus syndrome. The newborn's phenotype is characterized by a combination of serious anatomical abnormalities such as open-book cerebral hemispheres, defective lobulation of the lungs (one lobe on the left, two on the right), a smaller right kidney, a smooth cerebral surface, and a specific keyhole-shaped defect in the skull base, primarily associated with hydrocephalus.
View Article and Find Full Text PDFDiagnostics (Basel)
January 2025
Department of Musculoskeletal Radiology, Hospital Universitario Virgen de las Nieves, 18014 Granada, Spain.
We aimed to analyze potential predictors for the development of metachronous fractures (MFs) after osteoporotic vertebral fractures (OVFs), with particular focus on radiological variables obtained at initial X-rays and computed tomography (CT) examinations, treatment applied (conservative management [CM] versus percutaneous vertebroplasty [PV]), and fractures located at the thoracolumbar junction (T11-L2). We conducted a two-center, observational retrospective study, including patients with single-level OVFs treated with CM or VP. We collected socio-demographic, radiological and treatment-related variables.
View Article and Find Full Text PDFJ Craniomaxillofac Surg
December 2024
Department of Medical Genetics and Genomic Medicine, University of Campinas (UNICAMP), SP, Brazil. Electronic address:
This study describes the results of whole exome sequencing in the etiological investigation and genetic counseling of families presenting with non-syndromic oral clefts with vertical transmission recorded in the Brazilian Database on Craniofacial Anomalies. Whole exome sequencing was performed in 18 families presenting with non-syndromic oral clefts with vertical transmission, and variant filtering was used to identify rare, and also possibly pathogenic variants in genes associated with oral clefts. Overall, our study identified seven families (38.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!