title: [DiGeorge syndrome/velcardiofacial syndrome: oral and maxillofacial surgery].
abstract: The DiGeorge syndrome/velocardiofacial syndrome is the most frequent chromosomal microdeletion syndrome. Partial deletion of chromosome 22q11 may lead to symptoms including facial dysmorphy, hypoparathyroidism, thymic aplasia, congenital heart disease, developmental retardation, and disturbance of speech development. According to the literature, 9% of patients have cleft palate, an additional 5% have a submucosal cleft, and a total of 32% show velopharyngeal insufficiency. We studied 64 children with a cleft, or with delayed speech development and a submucosal or occult cleft, for the presence of the 22q11deletion using fluorescent in situ hybridisation. Five patients had the 22q11 deletion. We conclude that patients presenting with nasal speech and additional anomalies should all be studied for the presence of submucosal or occult clefting and for the presence of the DiGeorge syndrome/velocardiofacial syndrome.
authors.affiliation: Klinik und Poliklinik für Mund-, Kiefer- und Gesichtschirurgie, Universitätsklinikum Dresden. winnie.pradel@mailbox.tu-dresden.de
authors.forename: W
authors.initials: W
authors.lastname: Pradel
authors.forename: O
authors.initials: O
authors.lastname: Bartsch
authors.forename: R
authors.initials: R
authors.lastname: Müller
authors.forename: G
authors.initials: G
authors.lastname: Lauer
authors.forename: U
authors.initials: U
authors.lastname: Eckelt
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007805:Language Development Disorders / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D013515:Surgery, Oral
vernacular_title: Das DiGeorge-Syndrom/velokardiofaziale Syndrom in der Mund-, Kiefer- und Gesichtschirurgie.