LADD syndrome: report of new cases and review of the clinical spectrum
Identifieur interne : 005821 ( Istex/Corpus ); précédent : 005820; suivant : 005822LADD syndrome: report of new cases and review of the clinical spectrum
Auteurs : H. R. Wiedemann ; J. DrescherSource :
- European Journal of Pediatrics [ 0340-6199 ] ; 1986-04-01.
English descriptors
- KwdEn :
- Abnormality, Anomaly, Aplasia, Arch ophthalmol, Atresia, Autosomal, Bilateral absence, Caries, Clinical spectrum, Congenital, Congenital absence, Dental anomalies, Developmental field defect, Duct, Early recognition, Federal republic, Hearing disorder, Hearing loss, Hypoplasia, Lacrimal, Lacrimal anomalies, Lacrimal glands, Lacrimal passage apparatus, Lacrimal puncta, Ladd, Ladd syndrome, Little saliva, Malformation syndromes, Malformed ears, Other anomalies, Parotid, Parotid glands, Puncta, Renal abnormalities, Salivary glands, Saunders comp, Severe caries, Short neck, Syndrome, Third centile, Variable expressivity.
- Teeft :
- Abnormality, Anomaly, Aplasia, Arch ophthalmol, Atresia, Autosomal, Bilateral absence, Caries, Clinical spectrum, Congenital, Congenital absence, Dental anomalies, Developmental field defect, Duct, Early recognition, Federal republic, Hearing disorder, Hearing loss, Hypoplasia, Lacrimal, Lacrimal anomalies, Lacrimal glands, Lacrimal passage apparatus, Lacrimal puncta, Ladd, Ladd syndrome, Little saliva, Malformation syndromes, Malformed ears, Other anomalies, Parotid, Parotid glands, Puncta, Renal abnormalities, Salivary glands, Saunders comp, Severe caries, Short neck, Syndrome, Third centile, Variable expressivity.
Abstract
Abstract: The lacrimo-auriculo-dento-digital or LADD syndrome is a true multiple congenital anomalies (MCA) syndrome characterized by hypoplasias, aplasias or atresias in the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, aplasias or atresias in the region of the salivary system; dental anomalies; and digital malformations. The syndrome is thought to be an autosomal dominant trait with variable expressivity. It seems to be rare. Two new cases are reported and the clinical spectrum of the syndrome is reviewed. The paediatrician who is responsible for the child as a whole individual should know the LADD syndrome. Its early recognition may be important.
Url:
DOI: 10.1007/BF00496040
Links to Exploration step
ISTEX:B093CB1C3AEBFADD8E8398BC53CE24813B723E01Le document en format XML
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The syndrome is thought to be an autosomal dominant trait with variable expressivity. It seems to be rare. Two new cases are reported and the clinical spectrum of the syndrome is reviewed. The paediatrician who is responsible for the child as a whole individual should know the LADD syndrome. 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The syndrome is thought to be an autosomal dominant trait with variable expressivity. It seems to be rare. Two new cases are reported and the clinical spectrum of the syndrome is reviewed. The paediatrician who is responsible for the child as a whole individual should know the LADD syndrome. 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The syndrome is thought to be an autosomal dominant trait with variable expressivity. It seems to be rare. Two new cases are reported and the clinical spectrum of the syndrome is reviewed. The paediatrician who is responsible for the child as a whole individual should know the LADD syndrome. Its early recognition may be important.</p></abstract><textClass><keywords scheme="keyword"><list><head>Abbreviations</head><item><term>LADD</term><term>lacrimo-auriculo-dento-digital</term></item><item><term>MCA</term><term>multiple congenital anomalies</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Medicine & Public Health</head><item><term>Pediatrics</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="1985-11-11">Created</change><change when="1986-04-01">Published</change><change xml:id="refBibs-istex" who="#ISTEX-API" when="2017-10-3">References added</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/B093CB1C3AEBFADD8E8398BC53CE24813B723E01/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Springer, Publisher found" wicri:toSee="no header"><istex:xmlDeclaration>version="1.0" encoding="UTF-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//Springer-Verlag//DTD A++ V2.4//EN" URI="http://devel.springer.de/A++/V2.4/DTD/A++V2.4.dtd" name="istex:docType"></istex:docType><istex:document><Publisher><PublisherInfo><PublisherName>Springer-Verlag</PublisherName><PublisherLocation>Berlin/Heidelberg</PublisherLocation></PublisherInfo><Journal><JournalInfo JournalProductType="ArchiveJournal" NumberingStyle="Unnumbered"><JournalID>431</JournalID><JournalPrintISSN>0340-6199</JournalPrintISSN><JournalElectronicISSN>1432-1076</JournalElectronicISSN><JournalTitle>European Journal of Pediatrics</JournalTitle><JournalAbbreviatedTitle>Eur J Pediatr</JournalAbbreviatedTitle><JournalSubjectGroup><JournalSubject Type="Primary">Medicine & Public Health</JournalSubject><JournalSubject Type="Secondary">Pediatrics</JournalSubject></JournalSubjectGroup></JournalInfo><Volume><VolumeInfo VolumeType="Regular" TocLevels="0"><VolumeIDStart>144</VolumeIDStart><VolumeIDEnd>144</VolumeIDEnd><VolumeIssueCount>6</VolumeIssueCount></VolumeInfo><Issue IssueType="Regular"><IssueInfo TocLevels="0"><IssueIDStart>6</IssueIDStart><IssueIDEnd>6</IssueIDEnd><IssueArticleCount>23</IssueArticleCount><IssueHistory><CoverDate><Year>1986</Year><Month>4</Month></CoverDate></IssueHistory><IssueCopyright><CopyrightHolderName>Springer-Verlag</CopyrightHolderName><CopyrightYear>1986</CopyrightYear></IssueCopyright></IssueInfo><Article ID="Art13"><ArticleInfo Language="En" ArticleType="OriginalPaper" NumberingStyle="Unnumbered" TocLevels="0" ContainsESM="No"><ArticleID>BF00496040</ArticleID><ArticleDOI>10.1007/BF00496040</ArticleDOI><ArticleSequenceNumber>13</ArticleSequenceNumber><ArticleTitle Language="En">LADD syndrome: report of new cases and review of the clinical spectrum</ArticleTitle><ArticleCategory>Original Investigations</ArticleCategory><ArticleFirstPage>579</ArticleFirstPage><ArticleLastPage>582</ArticleLastPage><ArticleHistory><RegistrationDate><Year>2004</Year><Month>10</Month><Day>5</Day></RegistrationDate><Received><Year>1985</Year><Month>11</Month><Day>11</Day></Received><Accepted><Year>1985</Year><Month>12</Month><Day>23</Day></Accepted></ArticleHistory><ArticleCopyright><CopyrightHolderName>Springer-Verlag</CopyrightHolderName><CopyrightYear>1986</CopyrightYear></ArticleCopyright><ArticleGrants Type="Regular"><MetadataGrant Grant="OpenAccess"></MetadataGrant><AbstractGrant Grant="OpenAccess"></AbstractGrant><BodyPDFGrant Grant="Restricted"></BodyPDFGrant><BodyHTMLGrant Grant="Restricted"></BodyHTMLGrant><BibliographyGrant Grant="Restricted"></BibliographyGrant><ESMGrant Grant="Restricted"></ESMGrant></ArticleGrants><ArticleContext><JournalID>431</JournalID><VolumeIDStart>144</VolumeIDStart><VolumeIDEnd>144</VolumeIDEnd><IssueIDStart>6</IssueIDStart><IssueIDEnd>6</IssueIDEnd></ArticleContext></ArticleInfo><ArticleHeader><AuthorGroup><Author AffiliationIDS="Aff1 Aff2" CorrespondingAffiliationID="Aff1"><AuthorName DisplayOrder="Western"><GivenName>H.</GivenName><GivenName>-R.</GivenName><FamilyName>Wiedemann</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff1 Aff2"><AuthorName DisplayOrder="Western"><GivenName>J.</GivenName><FamilyName>Drescher</FamilyName></AuthorName></Author><Affiliation ID="Aff1"><OrgName>University Children's Hospital</OrgName><OrgAddress><City>Kiel</City><Country>Federal Republic of Germany</Country></OrgAddress></Affiliation><Affiliation ID="Aff2"><OrgName>Municipal Children's Hospital</OrgName><OrgAddress><City>Oldenburg in Oldenburg</City><Country>Federal Republic of Germany</Country></OrgAddress></Affiliation></AuthorGroup><Abstract ID="Abs1" Language="En"><Heading>Abstract</Heading><Para>The lacrimo-auriculo-dento-digital or LADD syndrome is a true multiple congenital anomalies (MCA) syndrome characterized by hypoplasias, aplasias or atresias in the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, aplasias or atresias in the region of the salivary system; dental anomalies; and digital malformations. The syndrome is thought to be an autosomal dominant trait with variable expressivity. It seems to be rare. Two new cases are reported and the clinical spectrum of the syndrome is reviewed. The paediatrician who is responsible for the child as a whole individual should know the LADD syndrome. Its early recognition may be important.</Para></Abstract><KeywordGroup Language="En"><Heading>Key words</Heading><Keyword>Lacrimo-auriculo-dento-digital syndrome</Keyword><Keyword>LADD syndrome</Keyword><Keyword>Hearing loss</Keyword><Keyword>Salivary gland anomalies</Keyword><Keyword>Autosomal dominant inheritance</Keyword><Keyword>Pleiotropy</Keyword></KeywordGroup><AbbreviationGroup><Heading>Abbreviations</Heading><DefinitionList><DefinitionListEntry><Term>LADD</Term><Description><Para>lacrimo-auriculo-dento-digital</Para></Description></DefinitionListEntry><DefinitionListEntry><Term>MCA</Term><Description><Para>multiple congenital anomalies</Para></Description></DefinitionListEntry></DefinitionList></AbbreviationGroup><ArticleNote Type="Dedication"><SimplePara>Dedicated to Prof. John M. Opitz, Helena, on the occasion on his 50th birthday</SimplePara></ArticleNote></ArticleHeader><NoBody></NoBody></Article></Issue></Volume></Journal></Publisher></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>LADD syndrome: report of new cases and review of the clinical spectrum</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>LADD syndrome: report of new cases and review of the clinical spectrum</title></titleInfo><name type="personal" displayLabel="corresp"><namePart type="given">H.</namePart><namePart type="given">-R.</namePart><namePart type="family">Wiedemann</namePart><affiliation>University Children's Hospital, Kiel, Federal Republic of Germany</affiliation><affiliation>Municipal Children's Hospital, Oldenburg in Oldenburg, Federal Republic of Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J.</namePart><namePart type="family">Drescher</namePart><affiliation>University Children's Hospital, Kiel, Federal Republic of Germany</affiliation><affiliation>Municipal Children's Hospital, Oldenburg in Oldenburg, Federal Republic of Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="OriginalPaper" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-1JC4F85T-7">research-article</genre><originInfo><publisher>Springer-Verlag</publisher><place><placeTerm type="text">Berlin/Heidelberg</placeTerm></place><dateCreated encoding="w3cdtf">1985-11-11</dateCreated><dateIssued encoding="w3cdtf">1986-04-01</dateIssued><dateIssued encoding="w3cdtf">1986</dateIssued><copyrightDate encoding="w3cdtf">1986</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><abstract lang="en">Abstract: The lacrimo-auriculo-dento-digital or LADD syndrome is a true multiple congenital anomalies (MCA) syndrome characterized by hypoplasias, aplasias or atresias in the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, aplasias or atresias in the region of the salivary system; dental anomalies; and digital malformations. The syndrome is thought to be an autosomal dominant trait with variable expressivity. It seems to be rare. Two new cases are reported and the clinical spectrum of the syndrome is reviewed. The paediatrician who is responsible for the child as a whole individual should know the LADD syndrome. Its early recognition may be important.</abstract><note>Original Investigations</note><subject><genre>Abbreviations</genre><topic>LADD : lacrimo-auriculo-dento-digital</topic><topic>MCA : multiple congenital anomalies</topic></subject><relatedItem type="host"><titleInfo><title>European Journal of Pediatrics</title></titleInfo><titleInfo type="abbreviated"><title>Eur J Pediatr</title></titleInfo><genre type="journal" displayLabel="Archive Journal" authority="ISTEX" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><originInfo><publisher>Springer</publisher><dateIssued encoding="w3cdtf">1986-04-01</dateIssued><copyrightDate encoding="w3cdtf">1986</copyrightDate></originInfo><subject><genre>Medicine & Public Health</genre><topic>Pediatrics</topic></subject><identifier type="ISSN">0340-6199</identifier><identifier type="eISSN">1432-1076</identifier><identifier type="JournalID">431</identifier><identifier type="IssueArticleCount">23</identifier><identifier type="VolumeIssueCount">6</identifier><part><date>1986</date><detail type="volume"><number>144</number><caption>vol.</caption></detail><detail type="issue"><number>6</number><caption>no.</caption></detail><extent unit="pages"><start>579</start><end>582</end></extent></part><recordInfo><recordOrigin>Springer-Verlag, 1986</recordOrigin></recordInfo></relatedItem><identifier type="istex">B093CB1C3AEBFADD8E8398BC53CE24813B723E01</identifier><identifier type="ark">ark:/67375/1BB-5BXRDRH1-6</identifier><identifier type="DOI">10.1007/BF00496040</identifier><identifier type="ArticleID">BF00496040</identifier><identifier type="ArticleID">Art13</identifier><accessCondition type="use and reproduction" contentType="copyright">Springer-Verlag, 1986</accessCondition><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-3XSW68JL-F">springer</recordContentSource><recordOrigin>Springer-Verlag, 1986</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/document/B093CB1C3AEBFADD8E8398BC53CE24813B723E01/metadata/json</uri></json:item></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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