2003
DOI: 10.1002/ajmg.a.20191
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Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms

Abstract: As previously reported, gastroesophageal reflux (GER) is a frequent and severe medical complication of Cornelia de Lange syndrome (CDLS). The incidence of GER and the correlation between its presence and degree, and the clinical phenotype of CDLS (mild/classical according to Van Allen classification) were evaluated in a series of 43 patients. The pattern of presenting symptoms and their clinical evolution after medical or surgical treatment were also studied. A pathological GER was evident in 28/43 (65%) CDLS … Show more

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Cited by 106 publications
(112 citation statements)
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“…Respiratory and feeding difficulties and gastroesophageal reflux are known CdLS complications 1,15 , individuals with CdLS have a greater incidence of congenital heart abnormalities 1,16 and renal abnormalities can be found in >50% of classical cases (A. Selicorni, personal communication). Expression in the mesenchyme surrounding the cochlear canal (Fig.…”
mentioning
confidence: 99%
“…Respiratory and feeding difficulties and gastroesophageal reflux are known CdLS complications 1,15 , individuals with CdLS have a greater incidence of congenital heart abnormalities 1,16 and renal abnormalities can be found in >50% of classical cases (A. Selicorni, personal communication). Expression in the mesenchyme surrounding the cochlear canal (Fig.…”
mentioning
confidence: 99%
“…Tipik bulgularının yanı sıra daha az sıklıkta yarık damak, hiatus hernisi, hiatal diafragmatik herni, pilor stenozu, özefagus anomalisi, kolon anormallikleri gibi farklı anomalilerde Cornelia de Lange sendromunda görülebildiği rapor edilmiştir (10). Olgumuza yarık damak ve dudak anomalisi eşilik ediyordu.…”
Section: Discussionunclassified
“…Patients also have high incidence of gastroesophageal reflux disease due to hiatus hernia and poor esophageal motility which increases risk of aspiration [6]. Bronchopneumonia and gastrointestinal complications are the most common causes of mortality.…”
Section: Discussionmentioning
confidence: 99%