22q11 deletion syndrome and limb anomalies: Report on two Brazilian patients

dc.creatorKOKITSU-NAKATA, Nancy Mizue
dc.creatorGUION-ALMEIDA, Maria Leine
dc.creatorRICHIERI-COSTA, Antonio
dc.date.accessioned2012-10-20T02:03:36Z
dc.date.accessioned2018-07-04T15:29:25Z
dc.date.available2012-10-20T02:03:36Z
dc.date.available2018-07-04T15:29:25Z
dc.date.created2012-10-20T02:03:36Z
dc.date.issued2008
dc.identifierCLEFT PALATE-CRANIOFACIAL JOURNAL, v.45, n.5, p.561-566, 2008
dc.identifier1055-6656
dc.identifierhttp://producao.usp.br/handle/BDPI/26935
dc.identifier10.1597/06-170.1
dc.identifierhttp://dx.doi.org/10.1597/06-170.1
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1623585
dc.description.abstractObjective: To report on two Brazilian patients with chromosome 22q11 deletion who presented with velopharyngeal insufficiency, congenital heart anomalies, developmental delay, and limb anomalies. The pattern of limb anomalies in these patients, which range from ectrodactyly to limb synostosis, is very uncommon in 22q11 deletion syndrome. Conclusion: These patients widen the spectrum of clinical signs of the 22q11 deletion syndrome and alert researchers to conduct additional investigation in patients with limb involvement with velopharyngeal insufficiency and/or cardiac anomalies, along with developmental delay.
dc.languageeng
dc.publisherALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS
dc.relationCleft Palate-craniofacial Journal
dc.rightsCopyright ALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS
dc.rightsrestrictedAccess
dc.subject22q11.2 deletion syndrome
dc.subjectlimb anomalies
dc.subjectvelocardiofacial syndrome
dc.subjectvelopharyngeal insufficiency
dc.title22q11 deletion syndrome and limb anomalies: Report on two Brazilian patients
dc.typeArtículos de revistas


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