1
40
1
-
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1002/ajmg.a.20191" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.a.20191</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms
Publisher
An entity responsible for making the resource available
American Journal of Medical Genetics Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2003
Subject
The topic of the resource
Male; Child; Humans; Adult; Adolescent; Female; Child Preschool; Infant; Gastroesophageal Reflux; De Lange Syndrome; Esophagogastric Junction; feeding difficulties; trajectory; characteristics
Creator
An entity primarily responsible for making the resource
Luzzani S; Macchini F; Valadè A; Milani D; Selicorni A
Description
An account of the resource
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 patients. The incidence of the complication was not significantly different in patients with classical (93.3%) vs. mild phenotype (82.3%), whereas a strong correlation was present between the degree of the esophageal damage and the clinical phenotype. A behavioral symptom (hyperactivity) was the most frequent sign associated with the condition (85%). Our data confirm the high occurrence of GER in CDLS patients, independently from the CDLS clinical phenotype. Regarding the severity of the esophageal lesions, a significant difference between the two clinical CDLS phenotypes was found. The evaluation of the presenting symptoms and of their evolution during the treatment emphasizes the importance of behavioral symptoms as major signs of esophageal damage in CDLS.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.20191" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.20191</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2003
Adolescent
Adult
American Journal of Medical Genetics Part A
characteristics
Child
Child Preschool
De Lange syndrome
Esophagogastric Junction
feeding difficulties
Female
Gastroesophageal Reflux
Humans
Infant
Luzzani S
Macchini F
Male
Milani D
Selicorni A
Trajectory
Valadè A