Objective: To compare cephalometric measurements of patients with and without velocardiofacial syndrome.
Design: Cross-sectional.
Setting: Public tertiary craniofacial center.
Subjects: Lateral cephalograms of 18 patients with velocardiofacial syndrome and 18 controls without morphofunctional alterations, matched for gender and age; all cephalograms were obtained before orthodontic intervention.
Main Outcome Measures: The cephalograms were manually traced and digitized for the achievement of linear and angular measurements.
Results: Individuals with velocardiofacial syndrome presented a reduced length of the skull base, retrusion of nasal bones, reduced posterior height of the maxilla, increased gonial angle, increased interincisal angle, greater lingual inclination of the mandibular incisors, reduced nasolabial angle, and reduced nasal depth compared with the control group.
Conclusions: Patients with velocardiofacial syndrome presented morphological differences compared with individuals without morphofunctional alterations, which might be considered in the evaluation of patients with suspected diagnosis of the syndrome, as well as for the establishment of treatment protocols adequate to their needs. The present findings did not support the hypothesis of differences in pharyngeal dimensions mentioned by other authors, suggesting that the velopharyngeal insufficiency in these patients may be caused by functional alterations rather than by anatomical differences.
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http://dx.doi.org/10.1597/08-278.1 | DOI Listing |
Rev Alerg Mex
December 2024
Departamento de Inmunología, Hospital Infantil de Especialidades de Chihuahua; Facultad de Medicina y Ciencias Biomédicas, Universidad Autónoma de Chihuahua.
Background: 22q11 deletion syndrome consists of a variable grouping of phenotypic features and immunological defects secondary to the loss of genetic material located in the 22q11.2 band. The 22q11 deletion spectrum encompasses different syndromes related to the same etiology and with overlapping anomalies, including DiGeorge syndrome, velocardiofacial syndrome, among others.
View Article and Find Full Text PDFJ Craniofac Surg
December 2024
Cleft and Craniofacial South Australia, Women's and Children's Hospital, Adelaide, SA, Australia.
Velocardiofacial syndrome (VCFS), also known as 22q11.2 deletion syndrome or DiGeorge syndrome, is a complex genetic disorder associated with a spectrum of phenotypic features, including craniofacial anomalies, congenital heart defects, and neurodevelopmental challenges. Among the more concerning, though under-recognized, presentation in VCFS is carotid artery medialization-a finding that places patients at substantial risk for vascular injury during pharyngeal surgeries.
View Article and Find Full Text PDFCan J Psychiatry
December 2024
The Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
Objective: One in every 4 individuals born with a 22q11.2 microdeletion will develop schizophrenia. Thirty years of clinical genetic testing capability have enabled detection of this major molecular susceptibility for psychotic illness.
View Article and Find Full Text PDFBMC Pediatr
October 2024
Congenital and rare disease center (CIACER), Universidad Icesi, Cali, Colombia.
Plast Reconstr Surg
October 2024
Department of Plastic and Reconstructive Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Gyeonggi-do, South Korea.
Background: Early detection of rare genetic diseases, including velocardiofacial syndrome (VCFS), is essential for patient well-being. However, their rarity and limited clinical experience of physicians make diagnosis challenging. Deep learning algorithms have emerged as promising tools for efficient and accurate diagnosis.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!