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Full-Text Articles in Communication Sciences and Disorders
Velo-Cardio-Facial Syndrome, Doron Gothelf, Amos Frisch, Elena Michaelovsky, Abraham Weizman, Robert Shprintzen
Velo-Cardio-Facial Syndrome, Doron Gothelf, Amos Frisch, Elena Michaelovsky, Abraham Weizman, Robert Shprintzen
Robert J. Shprintzen
Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the microdeletion region and the physical and neuropsychiatric phenotype of the syndrome. Velocardiofacial syndrome has a wide spectrum of more than 200 physical manifestations including palate and cardiac anomalies. Yet, the most challenging manifestations of VCFS are the learning disabilities and neuropsychiatric disorders. As VCFS is relatively common and …
Velopharyngeal Insufficiency: Diagnosis And Management, Robert Shprintzen, Eileen Marrinan
Velopharyngeal Insufficiency: Diagnosis And Management, Robert Shprintzen, Eileen Marrinan
Robert J. Shprintzen
Journal articles relevant to the diagnosis and treatment of velopharyngeal insufficiency were reviewed. All studies ascertained by PubMed search were included. Recent findings: Studies reported on the application of magnetic resonance scanning, reliability tests of the International Working Group diagnostic protocol, the use of nasometry, and techniques designed to assess the function of the velopharyngeal mechanism. Treatment studies focused on outcomes in small samples of cases and complication rates from pharyngeal flap. One study discussed ineffective speech therapy procedures. Summary: There were relatively few studies this past year. Those that were published were hindered by small and heterogeneous sample sizes …