Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms
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...
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| Veröffentlicht in: | American journal of medical genetics 2003-06, Vol.119A (3), p.283-287 |
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| container_title | American journal of medical genetics |
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| creator | Luzzani, S. Macchini, F. Valadè, A. Milani, D. Selicorni, A. |
| description | 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. © 2003 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.20191 |
| format | Article |
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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. © 2003 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1552-4833</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.a.20191</identifier><identifier>PMID: 12784293</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adolescent ; Adult ; Biological and medical sciences ; Child ; Child, Preschool ; Complex syndromes ; Cornelia de Lange ; De Lange Syndrome - complications ; De Lange Syndrome - diagnosis ; Esophagogastric Junction - pathology ; Female ; gastroesophageal reflux ; Gastroesophageal Reflux - complications ; Gastroesophageal Reflux - diagnosis ; Humans ; hyperactivity ; Infant ; Male ; Medical genetics ; Medical sciences ; self-injurious behavior</subject><ispartof>American journal of medical genetics, 2003-06, Vol.119A (3), p.283-287</ispartof><rights>Copyright © 2003 Wiley‐Liss, Inc.</rights><rights>2003 INIST-CNRS</rights><rights>Copyright 2003 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4681-bc53b54e7da1f01571127735ed8c8edc1201b7f780279d2b1de3fcefdcaa6db83</citedby><cites>FETCH-LOGICAL-c4681-bc53b54e7da1f01571127735ed8c8edc1201b7f780279d2b1de3fcefdcaa6db83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fajmg.a.20191$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajmg.a.20191$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14802648$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12784293$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Luzzani, S.</creatorcontrib><creatorcontrib>Macchini, F.</creatorcontrib><creatorcontrib>Valadè, A.</creatorcontrib><creatorcontrib>Milani, D.</creatorcontrib><creatorcontrib>Selicorni, A.</creatorcontrib><title>Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>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. © 2003 Wiley‐Liss, Inc.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Complex syndromes</subject><subject>Cornelia de Lange</subject><subject>De Lange Syndrome - complications</subject><subject>De Lange Syndrome - diagnosis</subject><subject>Esophagogastric Junction - pathology</subject><subject>Female</subject><subject>gastroesophageal reflux</subject><subject>Gastroesophageal Reflux - complications</subject><subject>Gastroesophageal Reflux - diagnosis</subject><subject>Humans</subject><subject>hyperactivity</subject><subject>Infant</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>self-injurious behavior</subject><issn>1552-4825</issn><issn>0148-7299</issn><issn>1552-4833</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkMtv1DAQh60K1JbCjXOVC5zI4kcce3srK1ge2-XSqhIXa2JPtmnzqp0VzX-Pl03bG5zGI30z499HyFtGZ4xS_hFum80MZpyyOTsgx0xKnmZaiBdPby6PyKsQbikVVKr8kBwxrnTG5-KYXC0hDL7D0PU3sEGoE49lvX1IoHXJovMt1hUkDpMVtBtMwtg63zV4llyOfWUjvuNgmJowNv3QNeE1eVlCHfDNVE_I1ZfPl4uv6ern8tvifJXaLNcsLawUhcxQOWAlZVKx-DElJDptNTrLYqhClUpTruaOF8yhKC2WzgLkrtDihLzf7-19d7_FMJimChbrGlrstsEoIbhmiv0X5FRHZTSL4Ic9aH0XQnRhel814EfDqNn5NjvfBsxf3xE_nfZuiwbdMzwJjsC7CYAQDZUeWluFZy6L2fJsl0Tsud9VjeM_j5rz7xfLx_PpfqoKAz48TYG_M7kSSprr9dKspfr16eLHyqzFH9z3qPw</recordid><startdate>20030615</startdate><enddate>20030615</enddate><creator>Luzzani, S.</creator><creator>Macchini, F.</creator><creator>Valadè, A.</creator><creator>Milani, D.</creator><creator>Selicorni, A.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20030615</creationdate><title>Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms</title><author>Luzzani, S. ; Macchini, F. ; Valadè, A. ; Milani, D. ; Selicorni, A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4681-bc53b54e7da1f01571127735ed8c8edc1201b7f780279d2b1de3fcefdcaa6db83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Complex syndromes</topic><topic>Cornelia de Lange</topic><topic>De Lange Syndrome - complications</topic><topic>De Lange Syndrome - diagnosis</topic><topic>Esophagogastric Junction - pathology</topic><topic>Female</topic><topic>gastroesophageal reflux</topic><topic>Gastroesophageal Reflux - complications</topic><topic>Gastroesophageal Reflux - diagnosis</topic><topic>Humans</topic><topic>hyperactivity</topic><topic>Infant</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>self-injurious behavior</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Luzzani, S.</creatorcontrib><creatorcontrib>Macchini, F.</creatorcontrib><creatorcontrib>Valadè, A.</creatorcontrib><creatorcontrib>Milani, D.</creatorcontrib><creatorcontrib>Selicorni, A.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Luzzani, S.</au><au>Macchini, F.</au><au>Valadè, A.</au><au>Milani, D.</au><au>Selicorni, A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2003-06-15</date><risdate>2003</risdate><volume>119A</volume><issue>3</issue><spage>283</spage><epage>287</epage><pages>283-287</pages><issn>1552-4825</issn><issn>0148-7299</issn><eissn>1552-4833</eissn><eissn>1096-8628</eissn><coden>AJMGDA</coden><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 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. © 2003 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>12784293</pmid><doi>10.1002/ajmg.a.20191</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult Biological and medical sciences Child Child, Preschool Complex syndromes Cornelia de Lange De Lange Syndrome - complications De Lange Syndrome - diagnosis Esophagogastric Junction - pathology Female gastroesophageal reflux Gastroesophageal Reflux - complications Gastroesophageal Reflux - diagnosis Humans hyperactivity Infant Male Medical genetics Medical sciences self-injurious behavior |
| title | Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms |
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