The Hajdu-Cheney syndrome
Identifieur interne : 007199 ( Istex/Corpus ); précédent : 007198; suivant : 007200The Hajdu-Cheney syndrome
Auteurs : Richard G. Weleber ; Rodney K. BealsSource :
- The Journal of Pediatrics [ 0022-3476 ] ; 1976.
English descriptors
- KwdEn :
- Alkaline phosphatase, Anteverted nares, Antimongoloid palpebral fissures, Basilar impression, Birth weight, Conductive hearing loss, Constant feature, Diastasis recti, Disc spaces, Distal phalanges, Distal phalanx, Distinctive facies, Dysplasia, Early childhood, Early schmorl nodes, Epicanthal folds, Fifth metatarsals, Growth failure, Head circumference, High myopia, High palate, Interpupillary distance, Joint laxity, Late childhood, Lateral skull radiograph, Long bones, Long philtrum, Lumbar spine, Lumbar vertebrae, Maturity scale, Mustarde index, Obtuse angle, Other findings, Outer canthal distances, Palpebral fissures, Pediatrics february, Persistent sutures, Poor articulation, Prominent occiput, Radial head, Radiograph, Short neck, Short stature, Skeletal dysplasia, Skeletal features, Skull, Slight undertubulation, Steep clivus, Syndrome, Thick bone, Third percentile, Transverse lytic defect, Umbilical hernia, Unequal growth, Voice quality, Wormian bones.
- Teeft :
- Alkaline phosphatase, Anteverted nares, Antimongoloid palpebral fissures, Basilar impression, Birth weight, Conductive hearing loss, Constant feature, Diastasis recti, Disc spaces, Distal phalanges, Distal phalanx, Distinctive facies, Dysplasia, Early childhood, Early schmorl nodes, Epicanthal folds, Fifth metatarsals, Growth failure, Head circumference, High myopia, High palate, Interpupillary distance, Joint laxity, Late childhood, Lateral skull radiograph, Long bones, Long philtrum, Lumbar spine, Lumbar vertebrae, Maturity scale, Mustarde index, Obtuse angle, Other findings, Outer canthal distances, Palpebral fissures, Pediatrics february, Persistent sutures, Poor articulation, Prominent occiput, Radial head, Radiograph, Short neck, Short stature, Skeletal dysplasia, Skeletal features, Skull, Slight undertubulation, Steep clivus, Syndrome, Thick bone, Third percentile, Transverse lytic defect, Umbilical hernia, Unequal growth, Voice quality, Wormian bones.
Abstract
The Hajdu-Cheney syndrome includes short stature, characteristic facies, and a slowly progressive skeletal dysplasia which affects skull, spine, and long bones. Two patients with this syndrome are presented. In the first patient the most distinctive skeletal feature, acro-osteolysis, was shown to be absent at age 6 years but was present at age 11 years. Diagnosis was made in the second case in the absence of acroosteolysis because of otherwise typical findings. Abnormalities affecting vision, hearing, and dentition occur and these, along with the other characteristic physical and radiographic features of the syndrome, should enable diagnosis prior to the onset of acro-osteolysis.
Url:
DOI: 10.1016/S0022-3476(76)80989-4
Links to Exploration step
ISTEX:E567A95AE5CE1FB515AFEFF381EEA84E813718D1Le document en format XML
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Weeks Institute of Ophthalmology, the Division of Medical Genetics, University of Oregon Health Sciences Center, Portland, Ore. USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Division of Orthopedics and Rehabilitation, Crippled Children's Division, University of Oregon Health Sciences Center, Portland, Ore. USA</mods:affiliation></affiliation></author><author><name sortKey="Beals, Rodney K" sort="Beals, Rodney K" uniqKey="Beals R" first="Rodney K." last="Beals">Rodney K. Beals</name><affiliation><mods:affiliation>John E. Weeks Institute of Ophthalmology, the Division of Medical Genetics, University of Oregon Health Sciences Center, Portland, Ore. USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Division of Orthopedics and Rehabilitation, Crippled Children's Division, University of Oregon Health Sciences Center, Portland, Ore. USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Reprint address: 3181 S.W. Sam Jackson Park Rd., Portland, Ore. 97201.</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">The Journal of Pediatrics</title><title level="j" type="abbrev">YMPD</title><idno type="ISSN">0022-3476</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1976">1976</date><biblScope unit="volume">88</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="243">243</biblScope><biblScope unit="page" to="249">249</biblScope></imprint><idno type="ISSN">0022-3476</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-3476</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alkaline phosphatase</term><term>Anteverted nares</term><term>Antimongoloid palpebral fissures</term><term>Basilar impression</term><term>Birth weight</term><term>Conductive hearing loss</term><term>Constant feature</term><term>Diastasis recti</term><term>Disc spaces</term><term>Distal phalanges</term><term>Distal phalanx</term><term>Distinctive facies</term><term>Dysplasia</term><term>Early childhood</term><term>Early schmorl nodes</term><term>Epicanthal folds</term><term>Fifth metatarsals</term><term>Growth failure</term><term>Head circumference</term><term>High myopia</term><term>High palate</term><term>Interpupillary distance</term><term>Joint laxity</term><term>Late childhood</term><term>Lateral skull radiograph</term><term>Long bones</term><term>Long philtrum</term><term>Lumbar spine</term><term>Lumbar vertebrae</term><term>Maturity scale</term><term>Mustarde index</term><term>Obtuse angle</term><term>Other findings</term><term>Outer canthal distances</term><term>Palpebral fissures</term><term>Pediatrics february</term><term>Persistent sutures</term><term>Poor articulation</term><term>Prominent occiput</term><term>Radial head</term><term>Radiograph</term><term>Short neck</term><term>Short stature</term><term>Skeletal dysplasia</term><term>Skeletal features</term><term>Skull</term><term>Slight undertubulation</term><term>Steep clivus</term><term>Syndrome</term><term>Thick bone</term><term>Third percentile</term><term>Transverse lytic defect</term><term>Umbilical hernia</term><term>Unequal growth</term><term>Voice quality</term><term>Wormian bones</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Alkaline phosphatase</term><term>Anteverted nares</term><term>Antimongoloid palpebral fissures</term><term>Basilar impression</term><term>Birth weight</term><term>Conductive hearing loss</term><term>Constant feature</term><term>Diastasis recti</term><term>Disc spaces</term><term>Distal phalanges</term><term>Distal phalanx</term><term>Distinctive facies</term><term>Dysplasia</term><term>Early childhood</term><term>Early schmorl nodes</term><term>Epicanthal folds</term><term>Fifth metatarsals</term><term>Growth failure</term><term>Head circumference</term><term>High myopia</term><term>High palate</term><term>Interpupillary distance</term><term>Joint laxity</term><term>Late childhood</term><term>Lateral skull radiograph</term><term>Long bones</term><term>Long philtrum</term><term>Lumbar spine</term><term>Lumbar vertebrae</term><term>Maturity scale</term><term>Mustarde index</term><term>Obtuse angle</term><term>Other findings</term><term>Outer canthal distances</term><term>Palpebral fissures</term><term>Pediatrics february</term><term>Persistent sutures</term><term>Poor articulation</term><term>Prominent occiput</term><term>Radial head</term><term>Radiograph</term><term>Short neck</term><term>Short stature</term><term>Skeletal dysplasia</term><term>Skeletal features</term><term>Skull</term><term>Slight undertubulation</term><term>Steep clivus</term><term>Syndrome</term><term>Thick bone</term><term>Third percentile</term><term>Transverse lytic defect</term><term>Umbilical hernia</term><term>Unequal growth</term><term>Voice quality</term><term>Wormian bones</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The Hajdu-Cheney syndrome includes short stature, characteristic facies, and a slowly progressive skeletal dysplasia which affects skull, spine, and long bones. Two patients with this syndrome are presented. In the first patient the most distinctive skeletal feature, acro-osteolysis, was shown to be absent at age 6 years but was present at age 11 years. Diagnosis was made in the second case in the absence of acroosteolysis because of otherwise typical findings. Abnormalities affecting vision, hearing, and dentition occur and these, along with the other characteristic physical and radiographic features of the syndrome, should enable diagnosis prior to the onset of acro-osteolysis.</div></front></TEI><istex><corpusName>elsevier</corpusName><keywords><teeft><json:string>radiograph</json:string><json:string>syndrome</json:string><json:string>distal phalanges</json:string><json:string>epicanthal folds</json:string><json:string>long bones</json:string><json:string>prominent occiput</json:string><json:string>wormian bones</json:string><json:string>short stature</json:string><json:string>long philtrum</json:string><json:string>dysplasia</json:string><json:string>disc spaces</json:string><json:string>steep clivus</json:string><json:string>late childhood</json:string><json:string>lumbar vertebrae</json:string><json:string>short neck</json:string><json:string>pediatrics february</json:string><json:string>joint laxity</json:string><json:string>slight undertubulation</json:string><json:string>head circumference</json:string><json:string>voice quality</json:string><json:string>poor articulation</json:string><json:string>maturity scale</json:string><json:string>high myopia</json:string><json:string>palpebral fissures</json:string><json:string>third percentile</json:string><json:string>outer canthal distances</json:string><json:string>interpupillary distance</json:string><json:string>mustarde index</json:string><json:string>other findings</json:string><json:string>antimongoloid palpebral fissures</json:string><json:string>anteverted nares</json:string><json:string>lateral skull radiograph</json:string><json:string>growth failure</json:string><json:string>obtuse angle</json:string><json:string>diastasis recti</json:string><json:string>fifth metatarsals</json:string><json:string>alkaline phosphatase</json:string><json:string>lumbar spine</json:string><json:string>early schmorl nodes</json:string><json:string>umbilical hernia</json:string><json:string>unequal growth</json:string><json:string>birth weight</json:string><json:string>skeletal dysplasia</json:string><json:string>thick bone</json:string><json:string>transverse lytic defect</json:string><json:string>distal phalanx</json:string><json:string>conductive hearing loss</json:string><json:string>distinctive facies</json:string><json:string>persistent sutures</json:string><json:string>radial head</json:string><json:string>basilar impression</json:string><json:string>constant feature</json:string><json:string>early childhood</json:string><json:string>high palate</json:string><json:string>skeletal features</json:string><json:string>skull</json:string></teeft></keywords><author><json:item><name>Richard G. 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V. Mosby Company</p></availability><date>1976</date></publicationStmt><notesStmt><note>Supported in part by Public Health Service Training Grant EYE 00006-20 from the National Eye Institute.</note><note type="content">Section title: Original article</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">The Hajdu-Cheney syndrome</title><title level="a" type="sub" xml:lang="en">Report of two cases and review of the literature</title><author xml:id="author-0000"><persName><forename type="first">Richard G.</forename><surname>Weleber</surname></persName><roleName type="degree">M.D.</roleName><affiliation>John E. Weeks Institute of Ophthalmology, the Division of Medical Genetics, University of Oregon Health Sciences Center, Portland, Ore. USA</affiliation><affiliation>Division of Orthopedics and Rehabilitation, Crippled Children's Division, University of Oregon Health Sciences Center, Portland, Ore. USA</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Rodney K.</forename><surname>Beals</surname></persName><roleName type="degree">M.D.</roleName><affiliation>John E. Weeks Institute of Ophthalmology, the Division of Medical Genetics, University of Oregon Health Sciences Center, Portland, Ore. USA</affiliation><affiliation>Division of Orthopedics and Rehabilitation, Crippled Children's Division, University of Oregon Health Sciences Center, Portland, Ore. USA</affiliation><affiliation>Reprint address: 3181 S.W. Sam Jackson Park Rd., Portland, Ore. 97201.</affiliation></author><idno type="istex">E567A95AE5CE1FB515AFEFF381EEA84E813718D1</idno><idno type="DOI">10.1016/S0022-3476(76)80989-4</idno><idno type="PII">S0022-3476(76)80989-4</idno><idno type="ArticleID">76809894</idno></analytic><monogr><title level="j">The Journal of Pediatrics</title><title level="j" type="abbrev">YMPD</title><idno type="pISSN">0022-3476</idno><idno type="PII">S0022-3476(76)X8981-4</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1976"></date><biblScope unit="volume">88</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="243">243</biblScope><biblScope unit="page" to="249">249</biblScope></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1976</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>The Hajdu-Cheney syndrome includes short stature, characteristic facies, and a slowly progressive skeletal dysplasia which affects skull, spine, and long bones. Two patients with this syndrome are presented. In the first patient the most distinctive skeletal feature, acro-osteolysis, was shown to be absent at age 6 years but was present at age 11 years. Diagnosis was made in the second case in the absence of acroosteolysis because of otherwise typical findings. Abnormalities affecting vision, hearing, and dentition occur and these, along with the other characteristic physical and radiographic features of the syndrome, should enable diagnosis prior to the onset of acro-osteolysis.</p></abstract></profileDesc><revisionDesc><change when="1976">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/E567A95AE5CE1FB515AFEFF381EEA84E813718D1/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Elsevier doc found" wicri:toSee="Elsevier, no converted or simple article"><istex:xmlDeclaration>version="1.0" encoding="utf-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//ES//DTD journal article DTD version 5.0.1//EN//XML" URI="art501.dtd" name="istex:docType"></istex:docType><istex:document><article version="5.0" xml:lang="en" docsubtype="fla"><item-info><jid>YMPD</jid><aid>76809894</aid><ce:pii>S0022-3476(76)80989-4</ce:pii><ce:doi>10.1016/S0022-3476(76)80989-4</ce:doi><ce:copyright type="unknown" year="1976">The C. V. Mosby Company</ce:copyright></item-info><head><ce:article-footnote><ce:label>**</ce:label><ce:note-para>Supported in part by Public Health Service Training Grant EYE 00006-20 from the National Eye Institute.</ce:note-para></ce:article-footnote><ce:dochead><ce:textfn>Original article</ce:textfn></ce:dochead><ce:title>The Hajdu-Cheney syndrome</ce:title><ce:subtitle>Report of two cases and review of the literature</ce:subtitle><ce:author-group><ce:author><ce:degrees>M.D.</ce:degrees><ce:given-name>Richard G.</ce:given-name><ce:surname>Weleber</ce:surname><ce:cross-ref refid="aff1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="aff2"><ce:sup>b</ce:sup></ce:cross-ref></ce:author><ce:author><ce:degrees>M.D.</ce:degrees><ce:given-name>Rodney K.</ce:given-name><ce:surname>Beals</ce:surname><ce:cross-ref refid="aff1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="aff2"><ce:sup>b</ce:sup></ce:cross-ref><ce:cross-ref refid="cor1"><ce:sup>*</ce:sup></ce:cross-ref></ce:author><ce:affiliation id="aff1"><ce:label>a</ce:label><ce:textfn>John E. Weeks Institute of Ophthalmology, the Division of Medical Genetics, University of Oregon Health Sciences Center, Portland, Ore. USA</ce:textfn></ce:affiliation><ce:affiliation id="aff2"><ce:label>b</ce:label><ce:textfn>Division of Orthopedics and Rehabilitation, Crippled Children's Division, University of Oregon Health Sciences Center, Portland, Ore. USA</ce:textfn></ce:affiliation><ce:correspondence id="cor1"><ce:label>*</ce:label><ce:text>Reprint address: 3181 S.W. Sam Jackson Park Rd., Portland, Ore. 97201.</ce:text></ce:correspondence></ce:author-group><ce:abstract id="ab1" class="author" xml:lang="en"><ce:abstract-sec><ce:simple-para>The Hajdu-Cheney syndrome includes short stature, characteristic facies, and a slowly progressive skeletal dysplasia which affects skull, spine, and long bones. Two patients with this syndrome are presented. In the first patient the most distinctive skeletal feature, acro-osteolysis, was shown to be absent at age 6 years but was present at age 11 years. Diagnosis was made in the second case in the absence of acroosteolysis because of otherwise typical findings. Abnormalities affecting vision, hearing, and dentition occur and these, along with the other characteristic physical and radiographic features of the syndrome, should enable diagnosis prior to the onset of acro-osteolysis.</ce:simple-para></ce:abstract-sec></ce:abstract></head><tail><ce:bibliography><ce:section-title>References</ce:section-title><ce:bibliography-sec><ce:bib-reference id="bib1"><ce:label>1.</ce:label><sb:reference><sb:contribution langtype="en"><sb:authors><sb:author><ce:surname>Mustarde</ce:surname><ce:given-name>J</ce:given-name></sb:author></sb:authors><sb:title><sb:maintitle>Epicanthal folds and the problem of telecanthus</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Trans Ophthalmol Soc UK</sb:maintitle></sb:title><sb:volume-nr>83</sb:volume-nr></sb:series><sb:date>1963</sb:date></sb:issue><sb:pages><sb:first-page>397</sb:first-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference 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Paris</sb:maintitle></sb:title><sb:volume-nr>73</sb:volume-nr></sb:series><sb:date>1957</sb:date></sb:issue><sb:pages><sb:first-page>109</sb:first-page></sb:pages></sb:host></sb:reference></ce:bib-reference></ce:bibliography-sec></ce:bibliography></tail></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>The Hajdu-Cheney syndrome</title><subTitle>Report of two cases and review of the literature</subTitle></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>The Hajdu-Cheney syndrome</title><subTitle>Report of two cases and review of the literature</subTitle></titleInfo><name type="personal"><namePart type="given">Richard G.</namePart><namePart type="family">Weleber</namePart><namePart type="termsOfAddress">M.D.</namePart><affiliation>John E. Weeks Institute of Ophthalmology, the Division of Medical Genetics, University of Oregon Health Sciences Center, Portland, Ore. USA</affiliation><affiliation>Division of Orthopedics and Rehabilitation, Crippled Children's Division, University of Oregon Health Sciences Center, Portland, Ore. USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Rodney K.</namePart><namePart type="family">Beals</namePart><namePart type="termsOfAddress">M.D.</namePart><affiliation>John E. Weeks Institute of Ophthalmology, the Division of Medical Genetics, University of Oregon Health Sciences Center, Portland, Ore. USA</affiliation><affiliation>Division of Orthopedics and Rehabilitation, Crippled Children's Division, University of Oregon Health Sciences Center, Portland, Ore. USA</affiliation><affiliation>Reprint address: 3181 S.W. Sam Jackson Park Rd., Portland, Ore. 97201.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="Full-length article" 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>ELSEVIER</publisher><dateIssued encoding="w3cdtf">1976</dateIssued><copyrightDate encoding="w3cdtf">1976</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><abstract lang="en">The Hajdu-Cheney syndrome includes short stature, characteristic facies, and a slowly progressive skeletal dysplasia which affects skull, spine, and long bones. Two patients with this syndrome are presented. In the first patient the most distinctive skeletal feature, acro-osteolysis, was shown to be absent at age 6 years but was present at age 11 years. Diagnosis was made in the second case in the absence of acroosteolysis because of otherwise typical findings. Abnormalities affecting vision, hearing, and dentition occur and these, along with the other characteristic physical and radiographic features of the syndrome, should enable diagnosis prior to the onset of acro-osteolysis.</abstract><note>Supported in part by Public Health Service Training Grant EYE 00006-20 from the National Eye Institute.</note><note type="content">Section title: Original article</note><relatedItem type="host"><titleInfo><title>The Journal of Pediatrics</title></titleInfo><titleInfo type="abbreviated"><title>YMPD</title></titleInfo><genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><originInfo><publisher>ELSEVIER</publisher><dateIssued encoding="w3cdtf">197602</dateIssued></originInfo><identifier type="ISSN">0022-3476</identifier><identifier type="PII">S0022-3476(76)X8981-4</identifier><part><date>197602</date><detail type="volume"><number>88</number><caption>vol.</caption></detail><detail type="issue"><number>2</number><caption>no.</caption></detail><extent unit="issue-pages"><start>A1</start><end>A40</end></extent><extent unit="issue-pages"><start>177</start><end>256</end></extent><extent unit="issue-pages"><start>A42</start><end>A55</end></extent><extent unit="issue-pages"><start>257</start><end>272</end></extent><extent unit="issue-pages"><start>A60</start><end>A70</end></extent><extent unit="issue-pages"><start>273</start><end>300</end></extent><extent unit="issue-pages"><start>A75</start></extent><extent unit="issue-pages"><start>301</start><end>370</end></extent><extent unit="issue-pages"><start>A85</start><end>A110</end></extent><extent unit="pages"><start>243</start><end>249</end></extent></part></relatedItem><identifier type="istex">E567A95AE5CE1FB515AFEFF381EEA84E813718D1</identifier><identifier type="ark">ark:/67375/6H6-91T9B9H5-J</identifier><identifier type="DOI">10.1016/S0022-3476(76)80989-4</identifier><identifier type="PII">S0022-3476(76)80989-4</identifier><identifier type="ArticleID">76809894</identifier><accessCondition type="use and reproduction" contentType="copyright">©1976 The C. V. Mosby Company</accessCondition><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-HKKZVM7B-M">elsevier</recordContentSource><recordOrigin>The C. V. Mosby Company, ©1976</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/document/E567A95AE5CE1FB515AFEFF381EEA84E813718D1/metadata/json</uri></json:item></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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