Bilateral Penetrating Keratoplasty for Sclerocornea in an Infant With Monosomy 21: Case Report and Review of the Literature
An 8-month-old Caucasian girl with monosomy 21 and sclerocornea underwent bilateral penetrating keratoplasties. Both light and electron microscopic studies were performed on the corneal buttons. Light microscopy revealed variable and abnormal corneal thickness with the peripheral cornea being thinne...
Gespeichert in:
| Veröffentlicht in: | Cornea 1994-09, Vol.13 (5), p.454-458 |
|---|---|
| Hauptverfasser: | , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 458 |
|---|---|
| container_issue | 5 |
| container_start_page | 454 |
| container_title | Cornea |
| container_volume | 13 |
| creator | Doane, John F Sajjadi, Hamid Richardson, Walter P |
| description | An 8-month-old Caucasian girl with monosomy 21 and sclerocornea underwent bilateral penetrating keratoplasties. Both light and electron microscopic studies were performed on the corneal buttons. Light microscopy revealed variable and abnormal corneal thickness with the peripheral cornea being thinner than the center, lack of Bowmanʼs layer, irregular stromal lamellae, stromal vascularization, markedly underdeveloped or absent Descemetʼs membrane, and marked attenuation of the endothelium. Electron microscopy demonstrated basal epithelial cells with a thin epithelial basement membrane residing directly on stromal lamellae without intervening Bowmanʼs layer. Stromal collagen fibrils were irregular in size measuring 38-69 nm in diameter. We believe this to be the first report of corneal transplantation and the second reported case of sclerocornea in a patient with monosomy 21. |
| doi_str_mv | 10.1097/00003226-199409000-00014 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_76884545</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>76884545</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3004-82b0fc6e1b0798f631c68f0b52b1d8e79b564e2ee827f2d627b95d30c8bb6bf83</originalsourceid><addsrcrecordid>eNp1kUuPFCEQx4nRrOPqRzDh5K0VaJqHN5342DhG4yMeCXQXTisDs0A7mfjlZZ1xb5IQiqp_VaV-hRCm5CklWj4j7fSMiY5qzYluv65dyu-gFR160XGp1V20IkzKrpec3EcPSvnRJFIKdoEupNYDkXSFfr-cg62QbcAfIULNts7xO37XPDXtgy31iH3K-PMYIKcx5QgWzxHbiK-it7Hib3Pd4vcpppJ2R8zoc7y2BfAn2Kdcm25q5q8ZDjh5XLeAN_NNu7pkeIjueRsKPDq_l-jr61df1m-7zYc3V-sXm27sCeGdYo74UQB1pE3lRU9HoTxxA3N0UiC1GwQHBqCY9GwSTDo9TD0ZlXPCedVfoienuvucrhco1ezmMkIINkJaipFCKT7woQnVSTjmVEoGb_Z53tl8NJSYG-7mH3dzy9385d5SH597LG4H023iGXSL81P8kEKbv_wMywGy2YINdWv-t87-Dw67jjA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>76884545</pqid></control><display><type>article</type><title>Bilateral Penetrating Keratoplasty for Sclerocornea in an Infant With Monosomy 21: Case Report and Review of the Literature</title><source>Journals@Ovid Ovid Autoload</source><source>MEDLINE</source><creator>Doane, John F ; Sajjadi, Hamid ; Richardson, Walter P</creator><creatorcontrib>Doane, John F ; Sajjadi, Hamid ; Richardson, Walter P</creatorcontrib><description>An 8-month-old Caucasian girl with monosomy 21 and sclerocornea underwent bilateral penetrating keratoplasties. Both light and electron microscopic studies were performed on the corneal buttons. Light microscopy revealed variable and abnormal corneal thickness with the peripheral cornea being thinner than the center, lack of Bowmanʼs layer, irregular stromal lamellae, stromal vascularization, markedly underdeveloped or absent Descemetʼs membrane, and marked attenuation of the endothelium. Electron microscopy demonstrated basal epithelial cells with a thin epithelial basement membrane residing directly on stromal lamellae without intervening Bowmanʼs layer. Stromal collagen fibrils were irregular in size measuring 38-69 nm in diameter. We believe this to be the first report of corneal transplantation and the second reported case of sclerocornea in a patient with monosomy 21.</description><identifier>ISSN: 0277-3740</identifier><identifier>EISSN: 1536-4798</identifier><identifier>DOI: 10.1097/00003226-199409000-00014</identifier><identifier>PMID: 7995071</identifier><language>eng</language><publisher>United States: Lippincott-Raven Publishers</publisher><subject>Chromosomes, Human, Pair 21 ; Cornea - abnormalities ; Cornea - surgery ; Cornea - ultrastructure ; Corneal Opacity - congenital ; Corneal Opacity - pathology ; Corneal Opacity - surgery ; Female ; Humans ; Infant ; Keratoplasty, Penetrating ; Monosomy - pathology ; Sclera - abnormalities ; Sclera - surgery ; Sclera - ultrastructure</subject><ispartof>Cornea, 1994-09, Vol.13 (5), p.454-458</ispartof><rights>Lippincott-Raven Publishers.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7995071$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Doane, John F</creatorcontrib><creatorcontrib>Sajjadi, Hamid</creatorcontrib><creatorcontrib>Richardson, Walter P</creatorcontrib><title>Bilateral Penetrating Keratoplasty for Sclerocornea in an Infant With Monosomy 21: Case Report and Review of the Literature</title><title>Cornea</title><addtitle>Cornea</addtitle><description>An 8-month-old Caucasian girl with monosomy 21 and sclerocornea underwent bilateral penetrating keratoplasties. Both light and electron microscopic studies were performed on the corneal buttons. Light microscopy revealed variable and abnormal corneal thickness with the peripheral cornea being thinner than the center, lack of Bowmanʼs layer, irregular stromal lamellae, stromal vascularization, markedly underdeveloped or absent Descemetʼs membrane, and marked attenuation of the endothelium. Electron microscopy demonstrated basal epithelial cells with a thin epithelial basement membrane residing directly on stromal lamellae without intervening Bowmanʼs layer. Stromal collagen fibrils were irregular in size measuring 38-69 nm in diameter. We believe this to be the first report of corneal transplantation and the second reported case of sclerocornea in a patient with monosomy 21.</description><subject>Chromosomes, Human, Pair 21</subject><subject>Cornea - abnormalities</subject><subject>Cornea - surgery</subject><subject>Cornea - ultrastructure</subject><subject>Corneal Opacity - congenital</subject><subject>Corneal Opacity - pathology</subject><subject>Corneal Opacity - surgery</subject><subject>Female</subject><subject>Humans</subject><subject>Infant</subject><subject>Keratoplasty, Penetrating</subject><subject>Monosomy - pathology</subject><subject>Sclera - abnormalities</subject><subject>Sclera - surgery</subject><subject>Sclera - ultrastructure</subject><issn>0277-3740</issn><issn>1536-4798</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kUuPFCEQx4nRrOPqRzDh5K0VaJqHN5342DhG4yMeCXQXTisDs0A7mfjlZZ1xb5IQiqp_VaV-hRCm5CklWj4j7fSMiY5qzYluv65dyu-gFR160XGp1V20IkzKrpec3EcPSvnRJFIKdoEupNYDkXSFfr-cg62QbcAfIULNts7xO37XPDXtgy31iH3K-PMYIKcx5QgWzxHbiK-it7Hib3Pd4vcpppJ2R8zoc7y2BfAn2Kdcm25q5q8ZDjh5XLeAN_NNu7pkeIjueRsKPDq_l-jr61df1m-7zYc3V-sXm27sCeGdYo74UQB1pE3lRU9HoTxxA3N0UiC1GwQHBqCY9GwSTDo9TD0ZlXPCedVfoienuvucrhco1ezmMkIINkJaipFCKT7woQnVSTjmVEoGb_Z53tl8NJSYG-7mH3dzy9385d5SH597LG4H023iGXSL81P8kEKbv_wMywGy2YINdWv-t87-Dw67jjA</recordid><startdate>199409</startdate><enddate>199409</enddate><creator>Doane, John F</creator><creator>Sajjadi, Hamid</creator><creator>Richardson, Walter P</creator><general>Lippincott-Raven Publishers</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>199409</creationdate><title>Bilateral Penetrating Keratoplasty for Sclerocornea in an Infant With Monosomy 21: Case Report and Review of the Literature</title><author>Doane, John F ; Sajjadi, Hamid ; Richardson, Walter P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3004-82b0fc6e1b0798f631c68f0b52b1d8e79b564e2ee827f2d627b95d30c8bb6bf83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>Chromosomes, Human, Pair 21</topic><topic>Cornea - abnormalities</topic><topic>Cornea - surgery</topic><topic>Cornea - ultrastructure</topic><topic>Corneal Opacity - congenital</topic><topic>Corneal Opacity - pathology</topic><topic>Corneal Opacity - surgery</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>Keratoplasty, Penetrating</topic><topic>Monosomy - pathology</topic><topic>Sclera - abnormalities</topic><topic>Sclera - surgery</topic><topic>Sclera - ultrastructure</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Doane, John F</creatorcontrib><creatorcontrib>Sajjadi, Hamid</creatorcontrib><creatorcontrib>Richardson, Walter P</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>Cornea</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Doane, John F</au><au>Sajjadi, Hamid</au><au>Richardson, Walter P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Bilateral Penetrating Keratoplasty for Sclerocornea in an Infant With Monosomy 21: Case Report and Review of the Literature</atitle><jtitle>Cornea</jtitle><addtitle>Cornea</addtitle><date>1994-09</date><risdate>1994</risdate><volume>13</volume><issue>5</issue><spage>454</spage><epage>458</epage><pages>454-458</pages><issn>0277-3740</issn><eissn>1536-4798</eissn><abstract>An 8-month-old Caucasian girl with monosomy 21 and sclerocornea underwent bilateral penetrating keratoplasties. Both light and electron microscopic studies were performed on the corneal buttons. Light microscopy revealed variable and abnormal corneal thickness with the peripheral cornea being thinner than the center, lack of Bowmanʼs layer, irregular stromal lamellae, stromal vascularization, markedly underdeveloped or absent Descemetʼs membrane, and marked attenuation of the endothelium. Electron microscopy demonstrated basal epithelial cells with a thin epithelial basement membrane residing directly on stromal lamellae without intervening Bowmanʼs layer. Stromal collagen fibrils were irregular in size measuring 38-69 nm in diameter. We believe this to be the first report of corneal transplantation and the second reported case of sclerocornea in a patient with monosomy 21.</abstract><cop>United States</cop><pub>Lippincott-Raven Publishers</pub><pmid>7995071</pmid><doi>10.1097/00003226-199409000-00014</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0277-3740 |
| ispartof | Cornea, 1994-09, Vol.13 (5), p.454-458 |
| issn | 0277-3740 1536-4798 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_76884545 |
| source | Journals@Ovid Ovid Autoload; MEDLINE |
| subjects | Chromosomes, Human, Pair 21 Cornea - abnormalities Cornea - surgery Cornea - ultrastructure Corneal Opacity - congenital Corneal Opacity - pathology Corneal Opacity - surgery Female Humans Infant Keratoplasty, Penetrating Monosomy - pathology Sclera - abnormalities Sclera - surgery Sclera - ultrastructure |
| title | Bilateral Penetrating Keratoplasty for Sclerocornea in an Infant With Monosomy 21: Case Report and Review of the Literature |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-05T11%3A05%3A36IST&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=Bilateral%20Penetrating%20Keratoplasty%20for%20Sclerocornea%20in%20an%20Infant%20With%20Monosomy%2021:%20Case%20Report%20and%20Review%20of%20the%20Literature&rft.jtitle=Cornea&rft.au=Doane,%20John%20F&rft.date=1994-09&rft.volume=13&rft.issue=5&rft.spage=454&rft.epage=458&rft.pages=454-458&rft.issn=0277-3740&rft.eissn=1536-4798&rft_id=info:doi/10.1097/00003226-199409000-00014&rft_dat=%3Cproquest_cross%3E76884545%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=76884545&rft_id=info:pmid/7995071&rfr_iscdi=true |