Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype
The combination of intracranial calcification and polymicrogyria is usually seen in the context of intrauterine infection, most frequently due to cytomegalovirus. Rare familial occurrences have been reported. We describe five patients—two male–female sibling pairs, one pair born to consanguineous pa...
Gespeichert in:
| Veröffentlicht in: | American journal of medical genetics. Part A 2008-12, Vol.146A (24), p.3173-3180 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 3180 |
|---|---|
| container_issue | 24 |
| container_start_page | 3173 |
| container_title | American journal of medical genetics. Part A |
| container_volume | 146A |
| creator | Briggs, T.A. Wolf, N.I. D'Arrigo, S. Ebinger, F. Harting, I. Dobyns, W.B. Livingston, J.H. Rice, G.I. Crooks, D. Rowland-Hill, C.A. Squier, W. Stoodley, N. Pilz, D.T. Crow, Y.J. |
| description | The combination of intracranial calcification and polymicrogyria is usually seen in the context of intrauterine infection, most frequently due to cytomegalovirus. Rare familial occurrences have been reported. We describe five patients—two male–female sibling pairs, one pair born to consanguineous parents, and an unrelated female—with a distinct pattern of band‐like intracranial calcification associated with simplified gyration and polymicrogyria. Clinical features include severe post‐natal microcephaly, seizures and profound developmental arrest. Testing for infectious agents was negative. We consider that these children have the same recognizable “pseudo‐TORCH” phenotype inherited as an autosomal recessive trait. © 2008 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.32614 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_69849259</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>20689403</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4704-1be6b2b3755c39f55be891e79852ce7255828fb4d33917c3f638d7c9f4af28473</originalsourceid><addsrcrecordid>eNqFkUtv1DAUhS0Eoi92rJFVia7I1M_YZjedwhTUUoSKQGwsx3Fat3nVTlTy73HJMOxgda-uv3OvfA4ALzFaYITIsbltrhdmQUmO2ROwizknGZOUPt32hO-AvRhvEaKIi_w52MEKYUI53gXjiWnLrPZ3Dvp2CMYG03pTQ2tq6ytvzeC7Fj744QZG3_R1mrkSXk9hfkhi2Hf11HgbujT15i1cwtLHwbd2gId9dGPZZVeXX1Znh7C_cW03TL07AM8qU0f3YlP3wdf3765WZ9n55frDanmeWSYQy3Dh8oIUVHBuqao4L5xU2AklObFOEM4lkVXBSkoVFpZWOZWlsKpipiKSCboPjua9fejuRxcH3fhoXV2b1nVj1LmSTBGu_gsSlEvFEE3gmxlM_40xuEr3wTcmTBoj_ZiHfsxDG_07j4S_2uwdi8aVf-FNAAl4vQFMTJ5XyX7r45YjSAquFEkcnbkHX7vpn0f18uPF-s_5bFalQNzPrcqEO52LZKv-9mmt1-Lz94sfJ6ea0V9-47N5</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>20689403</pqid></control><display><type>article</type><title>Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><creator>Briggs, T.A. ; Wolf, N.I. ; D'Arrigo, S. ; Ebinger, F. ; Harting, I. ; Dobyns, W.B. ; Livingston, J.H. ; Rice, G.I. ; Crooks, D. ; Rowland-Hill, C.A. ; Squier, W. ; Stoodley, N. ; Pilz, D.T. ; Crow, Y.J.</creator><creatorcontrib>Briggs, T.A. ; Wolf, N.I. ; D'Arrigo, S. ; Ebinger, F. ; Harting, I. ; Dobyns, W.B. ; Livingston, J.H. ; Rice, G.I. ; Crooks, D. ; Rowland-Hill, C.A. ; Squier, W. ; Stoodley, N. ; Pilz, D.T. ; Crow, Y.J.</creatorcontrib><description>The combination of intracranial calcification and polymicrogyria is usually seen in the context of intrauterine infection, most frequently due to cytomegalovirus. Rare familial occurrences have been reported. We describe five patients—two male–female sibling pairs, one pair born to consanguineous parents, and an unrelated female—with a distinct pattern of band‐like intracranial calcification associated with simplified gyration and polymicrogyria. Clinical features include severe post‐natal microcephaly, seizures and profound developmental arrest. Testing for infectious agents was negative. We consider that these children have the same recognizable “pseudo‐TORCH” phenotype inherited as an autosomal recessive trait. © 2008 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.32614</identifier><identifier>PMID: 19012351</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - pathology ; Biological and medical sciences ; Brain - pathology ; Brain Diseases - complications ; Calcinosis - complications ; Child ; Cytomegalovirus ; Fatal Outcome ; Female ; Humans ; Infant ; Infectious diseases ; intracranial calcification ; Magnetic Resonance Imaging ; Male ; Malformations of Cortical Development - complications ; Medical genetics ; Medical sciences ; Phenotype ; polymicrogyria ; Postmortem Changes ; pseudo-torch ; Tomography, X-Ray Computed ; Viral diseases</subject><ispartof>American journal of medical genetics. Part A, 2008-12, Vol.146A (24), p.3173-3180</ispartof><rights>Copyright © 2008 Wiley‐Liss, Inc.</rights><rights>2009 INIST-CNRS</rights><rights>Copyright (c) 2008 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4704-1be6b2b3755c39f55be891e79852ce7255828fb4d33917c3f638d7c9f4af28473</citedby><cites>FETCH-LOGICAL-c4704-1be6b2b3755c39f55be891e79852ce7255828fb4d33917c3f638d7c9f4af28473</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fajmg.a.32614$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajmg.a.32614$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=20875992$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19012351$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Briggs, T.A.</creatorcontrib><creatorcontrib>Wolf, N.I.</creatorcontrib><creatorcontrib>D'Arrigo, S.</creatorcontrib><creatorcontrib>Ebinger, F.</creatorcontrib><creatorcontrib>Harting, I.</creatorcontrib><creatorcontrib>Dobyns, W.B.</creatorcontrib><creatorcontrib>Livingston, J.H.</creatorcontrib><creatorcontrib>Rice, G.I.</creatorcontrib><creatorcontrib>Crooks, D.</creatorcontrib><creatorcontrib>Rowland-Hill, C.A.</creatorcontrib><creatorcontrib>Squier, W.</creatorcontrib><creatorcontrib>Stoodley, N.</creatorcontrib><creatorcontrib>Pilz, D.T.</creatorcontrib><creatorcontrib>Crow, Y.J.</creatorcontrib><title>Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype</title><title>American journal of medical genetics. Part A</title><addtitle>Am. J. Med. Genet</addtitle><description>The combination of intracranial calcification and polymicrogyria is usually seen in the context of intrauterine infection, most frequently due to cytomegalovirus. Rare familial occurrences have been reported. We describe five patients—two male–female sibling pairs, one pair born to consanguineous parents, and an unrelated female—with a distinct pattern of band‐like intracranial calcification associated with simplified gyration and polymicrogyria. Clinical features include severe post‐natal microcephaly, seizures and profound developmental arrest. Testing for infectious agents was negative. We consider that these children have the same recognizable “pseudo‐TORCH” phenotype inherited as an autosomal recessive trait. © 2008 Wiley‐Liss, Inc.</description><subject>Abnormalities, Multiple - pathology</subject><subject>Biological and medical sciences</subject><subject>Brain - pathology</subject><subject>Brain Diseases - complications</subject><subject>Calcinosis - complications</subject><subject>Child</subject><subject>Cytomegalovirus</subject><subject>Fatal Outcome</subject><subject>Female</subject><subject>Humans</subject><subject>Infant</subject><subject>Infectious diseases</subject><subject>intracranial calcification</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Malformations of Cortical Development - complications</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Phenotype</subject><subject>polymicrogyria</subject><subject>Postmortem Changes</subject><subject>pseudo-torch</subject><subject>Tomography, X-Ray Computed</subject><subject>Viral diseases</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkUtv1DAUhS0Eoi92rJFVia7I1M_YZjedwhTUUoSKQGwsx3Fat3nVTlTy73HJMOxgda-uv3OvfA4ALzFaYITIsbltrhdmQUmO2ROwizknGZOUPt32hO-AvRhvEaKIi_w52MEKYUI53gXjiWnLrPZ3Dvp2CMYG03pTQ2tq6ytvzeC7Fj744QZG3_R1mrkSXk9hfkhi2Hf11HgbujT15i1cwtLHwbd2gId9dGPZZVeXX1Znh7C_cW03TL07AM8qU0f3YlP3wdf3765WZ9n55frDanmeWSYQy3Dh8oIUVHBuqao4L5xU2AklObFOEM4lkVXBSkoVFpZWOZWlsKpipiKSCboPjua9fejuRxcH3fhoXV2b1nVj1LmSTBGu_gsSlEvFEE3gmxlM_40xuEr3wTcmTBoj_ZiHfsxDG_07j4S_2uwdi8aVf-FNAAl4vQFMTJ5XyX7r45YjSAquFEkcnbkHX7vpn0f18uPF-s_5bFalQNzPrcqEO52LZKv-9mmt1-Lz94sfJ6ea0V9-47N5</recordid><startdate>20081215</startdate><enddate>20081215</enddate><creator>Briggs, T.A.</creator><creator>Wolf, N.I.</creator><creator>D'Arrigo, S.</creator><creator>Ebinger, F.</creator><creator>Harting, I.</creator><creator>Dobyns, W.B.</creator><creator>Livingston, J.H.</creator><creator>Rice, G.I.</creator><creator>Crooks, D.</creator><creator>Rowland-Hill, C.A.</creator><creator>Squier, W.</creator><creator>Stoodley, N.</creator><creator>Pilz, D.T.</creator><creator>Crow, Y.J.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</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>7QP</scope><scope>7TK</scope><scope>7U9</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20081215</creationdate><title>Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype</title><author>Briggs, T.A. ; Wolf, N.I. ; D'Arrigo, S. ; Ebinger, F. ; Harting, I. ; Dobyns, W.B. ; Livingston, J.H. ; Rice, G.I. ; Crooks, D. ; Rowland-Hill, C.A. ; Squier, W. ; Stoodley, N. ; Pilz, D.T. ; Crow, Y.J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4704-1be6b2b3755c39f55be891e79852ce7255828fb4d33917c3f638d7c9f4af28473</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Abnormalities, Multiple - pathology</topic><topic>Biological and medical sciences</topic><topic>Brain - pathology</topic><topic>Brain Diseases - complications</topic><topic>Calcinosis - complications</topic><topic>Child</topic><topic>Cytomegalovirus</topic><topic>Fatal Outcome</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>Infectious diseases</topic><topic>intracranial calcification</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Malformations of Cortical Development - complications</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Phenotype</topic><topic>polymicrogyria</topic><topic>Postmortem Changes</topic><topic>pseudo-torch</topic><topic>Tomography, X-Ray Computed</topic><topic>Viral diseases</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Briggs, T.A.</creatorcontrib><creatorcontrib>Wolf, N.I.</creatorcontrib><creatorcontrib>D'Arrigo, S.</creatorcontrib><creatorcontrib>Ebinger, F.</creatorcontrib><creatorcontrib>Harting, I.</creatorcontrib><creatorcontrib>Dobyns, W.B.</creatorcontrib><creatorcontrib>Livingston, J.H.</creatorcontrib><creatorcontrib>Rice, G.I.</creatorcontrib><creatorcontrib>Crooks, D.</creatorcontrib><creatorcontrib>Rowland-Hill, C.A.</creatorcontrib><creatorcontrib>Squier, W.</creatorcontrib><creatorcontrib>Stoodley, N.</creatorcontrib><creatorcontrib>Pilz, D.T.</creatorcontrib><creatorcontrib>Crow, Y.J.</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>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Briggs, T.A.</au><au>Wolf, N.I.</au><au>D'Arrigo, S.</au><au>Ebinger, F.</au><au>Harting, I.</au><au>Dobyns, W.B.</au><au>Livingston, J.H.</au><au>Rice, G.I.</au><au>Crooks, D.</au><au>Rowland-Hill, C.A.</au><au>Squier, W.</au><au>Stoodley, N.</au><au>Pilz, D.T.</au><au>Crow, Y.J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2008-12-15</date><risdate>2008</risdate><volume>146A</volume><issue>24</issue><spage>3173</spage><epage>3180</epage><pages>3173-3180</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>The combination of intracranial calcification and polymicrogyria is usually seen in the context of intrauterine infection, most frequently due to cytomegalovirus. Rare familial occurrences have been reported. We describe five patients—two male–female sibling pairs, one pair born to consanguineous parents, and an unrelated female—with a distinct pattern of band‐like intracranial calcification associated with simplified gyration and polymicrogyria. Clinical features include severe post‐natal microcephaly, seizures and profound developmental arrest. Testing for infectious agents was negative. We consider that these children have the same recognizable “pseudo‐TORCH” phenotype inherited as an autosomal recessive trait. © 2008 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>19012351</pmid><doi>10.1002/ajmg.a.32614</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1552-4825 |
| ispartof | American journal of medical genetics. Part A, 2008-12, Vol.146A (24), p.3173-3180 |
| issn | 1552-4825 1552-4833 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_69849259 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Abnormalities, Multiple - pathology Biological and medical sciences Brain - pathology Brain Diseases - complications Calcinosis - complications Child Cytomegalovirus Fatal Outcome Female Humans Infant Infectious diseases intracranial calcification Magnetic Resonance Imaging Male Malformations of Cortical Development - complications Medical genetics Medical sciences Phenotype polymicrogyria Postmortem Changes pseudo-torch Tomography, X-Ray Computed Viral diseases |
| title | Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-19T02%3A48%3A46IST&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=Band-like%20intracranial%20calcification%20with%20simplified%20gyration%20and%20polymicrogyria:%20A%20distinct%20%22pseudo-TORCH%22%20phenotype&rft.jtitle=American%20journal%20of%20medical%20genetics.%20Part%20A&rft.au=Briggs,%20T.A.&rft.date=2008-12-15&rft.volume=146A&rft.issue=24&rft.spage=3173&rft.epage=3180&rft.pages=3173-3180&rft.issn=1552-4825&rft.eissn=1552-4833&rft_id=info:doi/10.1002/ajmg.a.32614&rft_dat=%3Cproquest_cross%3E20689403%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=20689403&rft_id=info:pmid/19012351&rfr_iscdi=true |