A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: Cranioectodermal dysplasia
Five children are reported with dolichocephaly (with sagittal suture synostosis in three), sparse, slow-growing, fine hair, epicanthal folds, hypodontia and/or microdontia, short span, brachydactyly and brachypodia, and narrow thoraces. Radiologic abnormalities were noted chiefly in the skull, chest...
Gespeichert in:
| Veröffentlicht in: | The Journal of pediatrics 1977, Vol.90 (1), p.55-61 |
|---|---|
| Hauptverfasser: | , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 61 |
|---|---|
| container_issue | 1 |
| container_start_page | 55 |
| container_title | The Journal of pediatrics |
| container_volume | 90 |
| creator | Levin, L. Stefan Perrin, Jane C.S. Ose, Leiv Dorst, John P. Miller, J. Daniel McKusick, Victor A. |
| description | Five children are reported with dolichocephaly (with sagittal suture synostosis in three), sparse, slow-growing, fine hair, epicanthal folds, hypodontia and/or microdontia, short span, brachydactyly and brachypodia, and narrow thoraces. Radiologic abnormalities were noted chiefly in the skull, chest, and limbs. Intelligence was normal. The pattern of inheritance is compatible with an autosomal recessive trait. |
| doi_str_mv | 10.1016/S0022-3476(77)80764-6 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_83806778</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0022347677807646</els_id><sourcerecordid>83806778</sourcerecordid><originalsourceid>FETCH-LOGICAL-c425t-f7f686413b66683357ef89afc2984d89e9072a832091e1f76e25b28dcb99325a3</originalsourceid><addsrcrecordid>eNqFkE1r3DAQhkVI026T_IMGdCotxK0s2frIpYSlbQKBHNqehSyNWQXb2mq0gYX--Ho_yDWngZlnZngfQq5q9qVmtfz6izHOK9Eo-Umpz5op2VTyhCxqZlQltRCnZPGCvCPvEZ8YY6Zh7C0504Jp0yzIv1u6ghyL6waguJ1CTiPQ1FOf3RTT3ElYEka8prhKudCyihNduZivaYCpuIG6bkp5dEMsEWbMTeGIDnHs8IYu95fAlxRgx9GwxfXgMLoL8qZ3A8LlsZ6TPz--_17eVQ-PP--Xtw-Vb3hbql71UsumFp2Uu1ytgl4b13tudBO0AcMUd1pwZmqoeyWBtx3XwXfGCN46cU4-Hu6uc_q7ASx2jOhhGNwEaYNWC82kUnoG2wPoc0LM0Nt1jqPLW1szu5Nu99LtzqhVyu6lWznvfTg-2HQjhJetg-V5_O0whjnkc4Rs0UeYPISYZy82pPjKg_8ryZL3</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>83806778</pqid></control><display><type>article</type><title>A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: Cranioectodermal dysplasia</title><source>MEDLINE</source><source>Elsevier ScienceDirect Journals</source><creator>Levin, L. Stefan ; Perrin, Jane C.S. ; Ose, Leiv ; Dorst, John P. ; Miller, J. Daniel ; McKusick, Victor A.</creator><creatorcontrib>Levin, L. Stefan ; Perrin, Jane C.S. ; Ose, Leiv ; Dorst, John P. ; Miller, J. Daniel ; McKusick, Victor A.</creatorcontrib><description>Five children are reported with dolichocephaly (with sagittal suture synostosis in three), sparse, slow-growing, fine hair, epicanthal folds, hypodontia and/or microdontia, short span, brachydactyly and brachypodia, and narrow thoraces. Radiologic abnormalities were noted chiefly in the skull, chest, and limbs. Intelligence was normal. The pattern of inheritance is compatible with an autosomal recessive trait.</description><identifier>ISSN: 0022-3476</identifier><identifier>EISSN: 1097-6833</identifier><identifier>DOI: 10.1016/S0022-3476(77)80764-6</identifier><identifier>PMID: 830894</identifier><language>eng</language><publisher>United States: Mosby, Inc</publisher><subject>Abnormalities, Multiple - genetics ; Craniosynostoses - genetics ; Female ; Hair - abnormalities ; Humans ; Infant ; Limb Deformities, Congenital ; Male ; Skull - abnormalities ; Syndrome ; Tooth Abnormalities - genetics</subject><ispartof>The Journal of pediatrics, 1977, Vol.90 (1), p.55-61</ispartof><rights>1977 The C. V. Mosby Company</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c425t-f7f686413b66683357ef89afc2984d89e9072a832091e1f76e25b28dcb99325a3</citedby><cites>FETCH-LOGICAL-c425t-f7f686413b66683357ef89afc2984d89e9072a832091e1f76e25b28dcb99325a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0022347677807646$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,4010,27900,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/830894$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Levin, L. Stefan</creatorcontrib><creatorcontrib>Perrin, Jane C.S.</creatorcontrib><creatorcontrib>Ose, Leiv</creatorcontrib><creatorcontrib>Dorst, John P.</creatorcontrib><creatorcontrib>Miller, J. Daniel</creatorcontrib><creatorcontrib>McKusick, Victor A.</creatorcontrib><title>A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: Cranioectodermal dysplasia</title><title>The Journal of pediatrics</title><addtitle>J Pediatr</addtitle><description>Five children are reported with dolichocephaly (with sagittal suture synostosis in three), sparse, slow-growing, fine hair, epicanthal folds, hypodontia and/or microdontia, short span, brachydactyly and brachypodia, and narrow thoraces. Radiologic abnormalities were noted chiefly in the skull, chest, and limbs. Intelligence was normal. The pattern of inheritance is compatible with an autosomal recessive trait.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Craniosynostoses - genetics</subject><subject>Female</subject><subject>Hair - abnormalities</subject><subject>Humans</subject><subject>Infant</subject><subject>Limb Deformities, Congenital</subject><subject>Male</subject><subject>Skull - abnormalities</subject><subject>Syndrome</subject><subject>Tooth Abnormalities - genetics</subject><issn>0022-3476</issn><issn>1097-6833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1977</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1r3DAQhkVI026T_IMGdCotxK0s2frIpYSlbQKBHNqehSyNWQXb2mq0gYX--Ho_yDWngZlnZngfQq5q9qVmtfz6izHOK9Eo-Umpz5op2VTyhCxqZlQltRCnZPGCvCPvEZ8YY6Zh7C0504Jp0yzIv1u6ghyL6waguJ1CTiPQ1FOf3RTT3ElYEka8prhKudCyihNduZivaYCpuIG6bkp5dEMsEWbMTeGIDnHs8IYu95fAlxRgx9GwxfXgMLoL8qZ3A8LlsZ6TPz--_17eVQ-PP--Xtw-Vb3hbql71UsumFp2Uu1ytgl4b13tudBO0AcMUd1pwZmqoeyWBtx3XwXfGCN46cU4-Hu6uc_q7ASx2jOhhGNwEaYNWC82kUnoG2wPoc0LM0Nt1jqPLW1szu5Nu99LtzqhVyu6lWznvfTg-2HQjhJetg-V5_O0whjnkc4Rs0UeYPISYZy82pPjKg_8ryZL3</recordid><startdate>1977</startdate><enddate>1977</enddate><creator>Levin, L. Stefan</creator><creator>Perrin, Jane C.S.</creator><creator>Ose, Leiv</creator><creator>Dorst, John P.</creator><creator>Miller, J. Daniel</creator><creator>McKusick, Victor A.</creator><general>Mosby, Inc</general><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>7X8</scope></search><sort><creationdate>1977</creationdate><title>A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: Cranioectodermal dysplasia</title><author>Levin, L. Stefan ; Perrin, Jane C.S. ; Ose, Leiv ; Dorst, John P. ; Miller, J. Daniel ; McKusick, Victor A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c425t-f7f686413b66683357ef89afc2984d89e9072a832091e1f76e25b28dcb99325a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1977</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Craniosynostoses - genetics</topic><topic>Female</topic><topic>Hair - abnormalities</topic><topic>Humans</topic><topic>Infant</topic><topic>Limb Deformities, Congenital</topic><topic>Male</topic><topic>Skull - abnormalities</topic><topic>Syndrome</topic><topic>Tooth Abnormalities - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Levin, L. Stefan</creatorcontrib><creatorcontrib>Perrin, Jane C.S.</creatorcontrib><creatorcontrib>Ose, Leiv</creatorcontrib><creatorcontrib>Dorst, John P.</creatorcontrib><creatorcontrib>Miller, J. Daniel</creatorcontrib><creatorcontrib>McKusick, Victor A.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>The Journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Levin, L. Stefan</au><au>Perrin, Jane C.S.</au><au>Ose, Leiv</au><au>Dorst, John P.</au><au>Miller, J. Daniel</au><au>McKusick, Victor A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: Cranioectodermal dysplasia</atitle><jtitle>The Journal of pediatrics</jtitle><addtitle>J Pediatr</addtitle><date>1977</date><risdate>1977</risdate><volume>90</volume><issue>1</issue><spage>55</spage><epage>61</epage><pages>55-61</pages><issn>0022-3476</issn><eissn>1097-6833</eissn><abstract>Five children are reported with dolichocephaly (with sagittal suture synostosis in three), sparse, slow-growing, fine hair, epicanthal folds, hypodontia and/or microdontia, short span, brachydactyly and brachypodia, and narrow thoraces. Radiologic abnormalities were noted chiefly in the skull, chest, and limbs. Intelligence was normal. The pattern of inheritance is compatible with an autosomal recessive trait.</abstract><cop>United States</cop><pub>Mosby, Inc</pub><pmid>830894</pmid><doi>10.1016/S0022-3476(77)80764-6</doi><tpages>7</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0022-3476 |
| ispartof | The Journal of pediatrics, 1977, Vol.90 (1), p.55-61 |
| issn | 0022-3476 1097-6833 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_83806778 |
| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Abnormalities, Multiple - genetics Craniosynostoses - genetics Female Hair - abnormalities Humans Infant Limb Deformities, Congenital Male Skull - abnormalities Syndrome Tooth Abnormalities - genetics |
| title | A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: Cranioectodermal dysplasia |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-05T15%3A02%3A10IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=A%20heritable%20syndrome%20of%20craniosynostosis,%20short%20thin%20hair,%20dental%20abnormalities,%20and%20short%20limbs:%20Cranioectodermal%20dysplasia&rft.jtitle=The%20Journal%20of%20pediatrics&rft.au=Levin,%20L.%20Stefan&rft.date=1977&rft.volume=90&rft.issue=1&rft.spage=55&rft.epage=61&rft.pages=55-61&rft.issn=0022-3476&rft.eissn=1097-6833&rft_id=info:doi/10.1016/S0022-3476(77)80764-6&rft_dat=%3Cproquest_cross%3E83806778%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=83806778&rft_id=info:pmid/830894&rft_els_id=S0022347677807646&rfr_iscdi=true |