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[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.
AuthorsW Pradel, O Bartsch, R Müller, G Lauer, U Eckelt
JournalHNO (HNO) Vol. 51 Issue 9 Pg. 755-8 (Sep 2003) ISSN: 0017-6192 [Print] Germany
Vernacular TitleDas DiGeorge-Syndrom/velokardiofaziale Syndrom in der Mund-, Kiefer- und Gesichtschirurgie.
PMID12955254 (Publication Type: Clinical Trial, Controlled Clinical Trial, English Abstract, Journal Article)
Topics
  • Adolescent
  • Child
  • Child, Preschool
  • Cleft Palate (diagnosis, genetics)
  • DiGeorge Syndrome (diagnosis, genetics, surgery)
  • Female
  • Genetic Testing
  • Humans
  • Infant
  • Infant, Newborn
  • Language Development Disorders (diagnosis, genetics)
  • Male
  • Surgery, Oral

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