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
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<front><div type="abstract" xml: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.</div>
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<ArticleTitle Language="En">LADD syndrome: report of new cases and review of the clinical spectrum</ArticleTitle>
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<ArticleHeader><AuthorGroup><Author AffiliationIDS="Aff1 Aff2" CorrespondingAffiliationID="Aff1"><AuthorName DisplayOrder="Western"><GivenName>H.</GivenName>
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<Author AffiliationIDS="Aff1 Aff2"><AuthorName DisplayOrder="Western"><GivenName>J.</GivenName>
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<Affiliation ID="Aff1"><OrgName>University Children's Hospital</OrgName>
<OrgAddress><City>Kiel</City>
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<Country>Federal Republic of Germany</Country>
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<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>
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<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>
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</AbbreviationGroup>
<ArticleNote Type="Dedication"><SimplePara>Dedicated to Prof. John M. Opitz, Helena, on the occasion on his 50th birthday</SimplePara>
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<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>
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<subject><genre>Medicine & Public Health</genre>
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