Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome
| Autor: | Alonso Puga, Marcos Vasquez, Mirta Palomares, M. Luisa Guzman, Gabriela M. Repetto, Guillermo Lay-Son |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Velopharyngeal Insufficiency Heart disease Adolescent Chromosomes Human Pair 22 Cleft Lip Physical examination Nasopharyngoscopy Audiology Risk Assessment Statistics Nonparametric Young Adult Velopharyngeal insufficiency Age Distribution Reference Values DiGeorge syndrome medicine Humans Genetic Predisposition to Disease Chile Sex Distribution Child Retrospective Studies medicine.diagnostic_test business.industry Incidence Infant Newborn Infant General Medicine Syndrome Microdeletion syndrome Middle Aged medicine.disease Occult Cleft Palate Exact test Otorhinolaryngology Case-Control Studies Child Preschool Pediatrics Perinatology and Child Health Female Chromosome Deletion business Follow-Up Studies |
| Zdroj: | INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY Artículos CONICYT CONICYT Chile instacron:CONICYT |
| ISSN: | 1872-8464 |
| Popis: | Objective Chromosome 22q11 microdeletion syndrome (del22q11) is the most frequent microdeletion syndrome in humans, with an estimated incidence of 1/4000. It is recognized as a common identifiable cause of cleft palate. We characterized palatal abnormalities in a large cohort of Chilean patients with del22q11. Methods Patients with the deletion were evaluated by geneticists and speech pathologists, including nasopharyngoscopy when indicated. Comparisons between groups with and without palatal abnormalities were performed using Fisher's exact test and Mann–Whitney U test. Results Two hundred and one patients were included in the study. Palate abnormalities were present in 154 patients (76.6%). The most frequent finding was submucous cleft palate (both classic and occult forms) seen in 80 patients (39.8% of the total group). Overt cleft palate or cleft lip/palate was seen in 30 patients (14.9%). Patients without palate abnormalities had significantly greater frequency of congenital heart disease and higher mortality. Conclusions Our data show a high frequency of palate abnormalities without significant association with congenital heart disease. The most common types of palate defects seen in this series are usually not evident on physical examination and thus require a high index of suspicion and active evaluation through nasopharyngoscopy. |
| Databáze: | OpenAIRE |
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