Optic disc anomalies and frontonasal dysplasia
AIMS To document the optic disc abnormalities in patients with frontonasal dysplasia in association with basal encephalocele. METHODS Names and hospital numbers of patients with midline clefts were obtained from the ophthalmology and genetics database. Six patients were identified who had the follow...
Gespeichert in:
| Veröffentlicht in: | British journal of ophthalmology 1998-03, Vol.82 (3), p.290-293 |
|---|---|
| Hauptverfasser: | , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 293 |
|---|---|
| container_issue | 3 |
| container_start_page | 290 |
| container_title | British journal of ophthalmology |
| container_volume | 82 |
| creator | Hodgkins, P Lees, M Lawson, J Reardon, W Leitch, J Thorogood, P Winter, R M Taylor, D S I |
| description | AIMS To document the optic disc abnormalities in patients with frontonasal dysplasia in association with basal encephalocele. METHODS Names and hospital numbers of patients with midline clefts were obtained from the ophthalmology and genetics database. Six patients were identified who had the following common findings: midline facial cleft with midline cleft lip and palate; hypertelorism; absent corpus callosum; basal (sphenoethmoidal) encephalocele; and pituitary deficiency (five out of six cases). Ophthalmic examination was performed with fundal photography where possible. RESULTS Two patients had unilateral and one a bilateral peripapillary staphyloma. Two patients had bilateral optic disc hypoplasia and one appeared to have a peripapillary staphyloma in one eye and a morning glory disc in the other. CONCLUSION Optic disc abnormalities were found in all patients with this constellation of clinical findings. This association appears to represent a distinct subgroup within the spectrum of frontonasal dysplasia. The presence of midline facial anomalies and any dysplastic disc should alert the physician as to the presence of an encephalocele. |
| doi_str_mv | 10.1136/bjo.82.3.290 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1722514</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>4012601591</sourcerecordid><originalsourceid>FETCH-LOGICAL-b506t-b42bbda6729c1510b134ade86a3e6d8e16db28d9add07b31ee6848141c69475b3</originalsourceid><addsrcrecordid>eNp9kc9rFDEUx0NR6lp78yosKHpxxrxkJj8ugqxaS4sFaT14CS-TrGadmazJrLT_vVl2WdRDT3nh--HL970vIU-B1gBcvLGrWCtW85ppekRm0AhVMSr1AzKjlMoKQMAj8jjnVfkyAfKYHGtRJiZnpL5aT6Gbu5C7OY5xwD74XCY3X6Y4TnHEjP3c3eV1jzngE_JwiX32p_v3hNx8_HC9-FRdXp2dL95dVralYqpsw6x1KCTTHbRALfAGnVcCuRdOeRDOMuU0Okel5eC9UI2CBjqhG9lafkLe7nzXGzt41_lxStibdQoDpjsTMZh_lTH8MN_jbwOSsRaaYvByb5Dir43PkxnKir7vcfRxk43USlMlaQGf_weu4iaNZbniJZUWnMmt3esd1aWYc_LLQxSgZtuCKS0YxQw3pYWCP_s7_gHen73oL_Y65g77ZcKxC_mAMRCcwtam2mEhT_72IGP6aYTksjWfvy5M-_6L_MbOuLko_Ksdb4fV_QH_AIaeqqs</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1778963274</pqid></control><display><type>article</type><title>Optic disc anomalies and frontonasal dysplasia</title><source>MEDLINE</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><source>Alma/SFX Local Collection</source><creator>Hodgkins, P ; Lees, M ; Lawson, J ; Reardon, W ; Leitch, J ; Thorogood, P ; Winter, R M ; Taylor, D S I</creator><creatorcontrib>Hodgkins, P ; Lees, M ; Lawson, J ; Reardon, W ; Leitch, J ; Thorogood, P ; Winter, R M ; Taylor, D S I</creatorcontrib><description>AIMS To document the optic disc abnormalities in patients with frontonasal dysplasia in association with basal encephalocele. METHODS Names and hospital numbers of patients with midline clefts were obtained from the ophthalmology and genetics database. Six patients were identified who had the following common findings: midline facial cleft with midline cleft lip and palate; hypertelorism; absent corpus callosum; basal (sphenoethmoidal) encephalocele; and pituitary deficiency (five out of six cases). Ophthalmic examination was performed with fundal photography where possible. RESULTS Two patients had unilateral and one a bilateral peripapillary staphyloma. Two patients had bilateral optic disc hypoplasia and one appeared to have a peripapillary staphyloma in one eye and a morning glory disc in the other. CONCLUSION Optic disc abnormalities were found in all patients with this constellation of clinical findings. This association appears to represent a distinct subgroup within the spectrum of frontonasal dysplasia. The presence of midline facial anomalies and any dysplastic disc should alert the physician as to the presence of an encephalocele.</description><identifier>ISSN: 0007-1161</identifier><identifier>EISSN: 1468-2079</identifier><identifier>DOI: 10.1136/bjo.82.3.290</identifier><identifier>PMID: 9602627</identifier><identifier>CODEN: BJOPAL</identifier><language>eng</language><publisher>BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd</publisher><subject>Abnormalities, Multiple - pathology ; Biological and medical sciences ; Cell adhesion & migration ; Child ; Child, Preschool ; Craniofacial Abnormalities ; encephalocele ; Encephalocele - pathology ; frontonasal dysplasia ; Humans ; Malformations of the eye ; Medical sciences ; Ophthalmology ; optic disc ; Optic Disk - abnormalities ; Optic nerve ; Original articles - Clinical science</subject><ispartof>British journal of ophthalmology, 1998-03, Vol.82 (3), p.290-293</ispartof><rights>British Journal of Ophthalmology</rights><rights>1998 INIST-CNRS</rights><rights>Copyright: 1998 British Journal of Ophthalmology</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b506t-b42bbda6729c1510b134ade86a3e6d8e16db28d9add07b31ee6848141c69475b3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1722514/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1722514/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,315,728,781,785,886,27928,27929,53795,53797</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2163010$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9602627$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hodgkins, P</creatorcontrib><creatorcontrib>Lees, M</creatorcontrib><creatorcontrib>Lawson, J</creatorcontrib><creatorcontrib>Reardon, W</creatorcontrib><creatorcontrib>Leitch, J</creatorcontrib><creatorcontrib>Thorogood, P</creatorcontrib><creatorcontrib>Winter, R M</creatorcontrib><creatorcontrib>Taylor, D S I</creatorcontrib><title>Optic disc anomalies and frontonasal dysplasia</title><title>British journal of ophthalmology</title><addtitle>Br J Ophthalmol</addtitle><description>AIMS To document the optic disc abnormalities in patients with frontonasal dysplasia in association with basal encephalocele. METHODS Names and hospital numbers of patients with midline clefts were obtained from the ophthalmology and genetics database. Six patients were identified who had the following common findings: midline facial cleft with midline cleft lip and palate; hypertelorism; absent corpus callosum; basal (sphenoethmoidal) encephalocele; and pituitary deficiency (five out of six cases). Ophthalmic examination was performed with fundal photography where possible. RESULTS Two patients had unilateral and one a bilateral peripapillary staphyloma. Two patients had bilateral optic disc hypoplasia and one appeared to have a peripapillary staphyloma in one eye and a morning glory disc in the other. CONCLUSION Optic disc abnormalities were found in all patients with this constellation of clinical findings. This association appears to represent a distinct subgroup within the spectrum of frontonasal dysplasia. The presence of midline facial anomalies and any dysplastic disc should alert the physician as to the presence of an encephalocele.</description><subject>Abnormalities, Multiple - pathology</subject><subject>Biological and medical sciences</subject><subject>Cell adhesion & migration</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Craniofacial Abnormalities</subject><subject>encephalocele</subject><subject>Encephalocele - pathology</subject><subject>frontonasal dysplasia</subject><subject>Humans</subject><subject>Malformations of the eye</subject><subject>Medical sciences</subject><subject>Ophthalmology</subject><subject>optic disc</subject><subject>Optic Disk - abnormalities</subject><subject>Optic nerve</subject><subject>Original articles - Clinical science</subject><issn>0007-1161</issn><issn>1468-2079</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp9kc9rFDEUx0NR6lp78yosKHpxxrxkJj8ugqxaS4sFaT14CS-TrGadmazJrLT_vVl2WdRDT3nh--HL970vIU-B1gBcvLGrWCtW85ppekRm0AhVMSr1AzKjlMoKQMAj8jjnVfkyAfKYHGtRJiZnpL5aT6Gbu5C7OY5xwD74XCY3X6Y4TnHEjP3c3eV1jzngE_JwiX32p_v3hNx8_HC9-FRdXp2dL95dVralYqpsw6x1KCTTHbRALfAGnVcCuRdOeRDOMuU0Okel5eC9UI2CBjqhG9lafkLe7nzXGzt41_lxStibdQoDpjsTMZh_lTH8MN_jbwOSsRaaYvByb5Dir43PkxnKir7vcfRxk43USlMlaQGf_weu4iaNZbniJZUWnMmt3esd1aWYc_LLQxSgZtuCKS0YxQw3pYWCP_s7_gHen73oL_Y65g77ZcKxC_mAMRCcwtam2mEhT_72IGP6aYTksjWfvy5M-_6L_MbOuLko_Ksdb4fV_QH_AIaeqqs</recordid><startdate>19980301</startdate><enddate>19980301</enddate><creator>Hodgkins, P</creator><creator>Lees, M</creator><creator>Lawson, J</creator><creator>Reardon, W</creator><creator>Leitch, J</creator><creator>Thorogood, P</creator><creator>Winter, R M</creator><creator>Taylor, D S I</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19980301</creationdate><title>Optic disc anomalies and frontonasal dysplasia</title><author>Hodgkins, P ; Lees, M ; Lawson, J ; Reardon, W ; Leitch, J ; Thorogood, P ; Winter, R M ; Taylor, D S I</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b506t-b42bbda6729c1510b134ade86a3e6d8e16db28d9add07b31ee6848141c69475b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Abnormalities, Multiple - pathology</topic><topic>Biological and medical sciences</topic><topic>Cell adhesion & migration</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Craniofacial Abnormalities</topic><topic>encephalocele</topic><topic>Encephalocele - pathology</topic><topic>frontonasal dysplasia</topic><topic>Humans</topic><topic>Malformations of the eye</topic><topic>Medical sciences</topic><topic>Ophthalmology</topic><topic>optic disc</topic><topic>Optic Disk - abnormalities</topic><topic>Optic nerve</topic><topic>Original articles - Clinical science</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hodgkins, P</creatorcontrib><creatorcontrib>Lees, M</creatorcontrib><creatorcontrib>Lawson, J</creatorcontrib><creatorcontrib>Reardon, W</creatorcontrib><creatorcontrib>Leitch, J</creatorcontrib><creatorcontrib>Thorogood, P</creatorcontrib><creatorcontrib>Winter, R M</creatorcontrib><creatorcontrib>Taylor, D S I</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>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>British journal of ophthalmology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hodgkins, P</au><au>Lees, M</au><au>Lawson, J</au><au>Reardon, W</au><au>Leitch, J</au><au>Thorogood, P</au><au>Winter, R M</au><au>Taylor, D S I</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Optic disc anomalies and frontonasal dysplasia</atitle><jtitle>British journal of ophthalmology</jtitle><addtitle>Br J Ophthalmol</addtitle><date>1998-03-01</date><risdate>1998</risdate><volume>82</volume><issue>3</issue><spage>290</spage><epage>293</epage><pages>290-293</pages><issn>0007-1161</issn><eissn>1468-2079</eissn><coden>BJOPAL</coden><abstract>AIMS To document the optic disc abnormalities in patients with frontonasal dysplasia in association with basal encephalocele. METHODS Names and hospital numbers of patients with midline clefts were obtained from the ophthalmology and genetics database. Six patients were identified who had the following common findings: midline facial cleft with midline cleft lip and palate; hypertelorism; absent corpus callosum; basal (sphenoethmoidal) encephalocele; and pituitary deficiency (five out of six cases). Ophthalmic examination was performed with fundal photography where possible. RESULTS Two patients had unilateral and one a bilateral peripapillary staphyloma. Two patients had bilateral optic disc hypoplasia and one appeared to have a peripapillary staphyloma in one eye and a morning glory disc in the other. CONCLUSION Optic disc abnormalities were found in all patients with this constellation of clinical findings. This association appears to represent a distinct subgroup within the spectrum of frontonasal dysplasia. The presence of midline facial anomalies and any dysplastic disc should alert the physician as to the presence of an encephalocele.</abstract><cop>BMA House, Tavistock Square, London, WC1H 9JR</cop><pub>BMJ Publishing Group Ltd</pub><pmid>9602627</pmid><doi>10.1136/bjo.82.3.290</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0007-1161 |
| ispartof | British journal of ophthalmology, 1998-03, Vol.82 (3), p.290-293 |
| issn | 0007-1161 1468-2079 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1722514 |
| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Abnormalities, Multiple - pathology Biological and medical sciences Cell adhesion & migration Child Child, Preschool Craniofacial Abnormalities encephalocele Encephalocele - pathology frontonasal dysplasia Humans Malformations of the eye Medical sciences Ophthalmology optic disc Optic Disk - abnormalities Optic nerve Original articles - Clinical science |
| title | Optic disc anomalies and frontonasal dysplasia |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-17T10%3A43%3A59IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Optic%20disc%20anomalies%20and%20frontonasal%20dysplasia&rft.jtitle=British%20journal%20of%20ophthalmology&rft.au=Hodgkins,%20P&rft.date=1998-03-01&rft.volume=82&rft.issue=3&rft.spage=290&rft.epage=293&rft.pages=290-293&rft.issn=0007-1161&rft.eissn=1468-2079&rft.coden=BJOPAL&rft_id=info:doi/10.1136/bjo.82.3.290&rft_dat=%3Cproquest_pubme%3E4012601591%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1778963274&rft_id=info:pmid/9602627&rfr_iscdi=true |