Literature DB >> 9849681

The velo-cardio-facial syndrome: the otorhinolaryngeal manifestations and implications.

G Vantrappen1, N Rommel, C W Cremers, K Devriendt, J P Frijns.   

Abstract

The velo-cardio-facial syndrome (VCFS), due to a deletion in chromosome 22 on its long arm (22q11), is a leading cause of velopharyngeal dysfunction and cleft palate. With the recent finding of a deletion on chromosome 22q11 in these patients with velopharyngeal dysfunction, a routine test is available making the diagnosis of VCFS much more frequent than previously thought.

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Year:  1998        PMID： 9849681     DOI： 10.1016/s0165-5876(98)00067-6

Source DB:  PubMed          Journal:  Int J Pediatr Otorhinolaryngol        ISSN： 0165-5876            Impact factor:   1.675


  5 in total

1.  Canonical Wnt signaling modulates Tbx1, Eya1, and Six1 expression, restricting neurogenesis in the otic vesicle.

Authors:  Laina Freyer; Bernice E Morrow
Journal:  Dev Dyn       Date:  2010-06       Impact factor: 3.780

Review 2.  Head and neck manifestations of 22q11.2 deletion syndromes.

Authors:  Tal Marom; Yehudah Roth; Abraham Goldfarb; Udi Cinamon
Journal:  Eur Arch Otorhinolaryngol       Date:  2011-08-23       Impact factor: 2.503

Review 3.  Hard to swallow: Developmental biological insights into pediatric dysphagia.

Authors:  Anthony-Samuel LaMantia; Sally A Moody; Thomas M Maynard; Beverly A Karpinski; Irene E Zohn; David Mendelowitz; Norman H Lee; Anastas Popratiloff
Journal:  Dev Biol       Date:  2015-11-07       Impact factor: 3.582

4.  Obstructive sleep apnea syndrome in children with 22q11.2 deletion syndrome after operative intervention for velopharyngeal insufficiency.

Authors:  David Jeffrey Crockett; Steven L Goudy; Sivakumar Chinnadurai; Christopher Todd Wootten
Journal:  Front Pediatr       Date:  2014-08-11       Impact factor: 3.418

5.  Characteristics of velopharyngeal dysfunction in 22q11.2 deletion syndrome: a retrospective case-control study.

Authors:  Sebastiano Failla; Peng You; Chandheeb Rajakumar; Anne Dworschak-Stokan; Philip C Doyle; Murad Husein
Journal:  J Otolaryngol Head Neck Surg       Date:  2020-07-31
  5 in total

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