Thanatophoric dysplasia and cloverleaf skull
Nine infants with thanatophoric dysplasia (TD) and cloverleaf skull (CS) are reported. Twenty‐two previously published CSTD cases are reviewed. These CSTD cases are compared to cases of TD without CS. U is concluded that there are two types of TD: type l, with curved femora and very flat vertebral b...
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| Veröffentlicht in: | American journal of medical genetics 1987, Vol.28 (S3), p.167-179 |
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| container_end_page | 179 |
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| container_issue | S3 |
| container_start_page | 167 |
| container_title | American journal of medical genetics |
| container_volume | 28 |
| creator | Langer Jr, Leonard O. Yang, S. Samuel Hall, Judith G. Sommer, Annemarie Kottamasu, Sambasiva R. Golabi, Mahin Krassikoff, Natalie Opitz, John M. Bernstein, Jay |
| description | Nine infants with thanatophoric dysplasia (TD) and cloverleaf skull (CS) are reported. Twenty‐two previously published CSTD cases are reviewed. These CSTD cases are compared to cases of TD without CS. U is concluded that there are two types of TD: type l, with curved femora and very flat vertebral bodies; and type 2, with straight femora and taller vertebral bodies. Consistent but subtle histopathological characteris‐tics differentiate the two types. Only a very few type l cases have CS, and the CS is mild. Almost all type 2 cases have severe CS. |
| doi_str_mv | 10.1002/ajmg.1320280521 |
| format | Article |
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Samuel ; Hall, Judith G. ; Sommer, Annemarie ; Kottamasu, Sambasiva R. ; Golabi, Mahin ; Krassikoff, Natalie ; Opitz, John M. ; Bernstein, Jay</creator><creatorcontrib>Langer Jr, Leonard O. ; Yang, S. Samuel ; Hall, Judith G. ; Sommer, Annemarie ; Kottamasu, Sambasiva R. ; Golabi, Mahin ; Krassikoff, Natalie ; Opitz, John M. ; Bernstein, Jay</creatorcontrib><description>Nine infants with thanatophoric dysplasia (TD) and cloverleaf skull (CS) are reported. Twenty‐two previously published CSTD cases are reviewed. These CSTD cases are compared to cases of TD without CS. U is concluded that there are two types of TD: type l, with curved femora and very flat vertebral bodies; and type 2, with straight femora and taller vertebral bodies. Consistent but subtle histopathological characteris‐tics differentiate the two types. Only a very few type l cases have CS, and the CS is mild. Almost all type 2 cases have severe CS.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320280521</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>bone dysplasia ; cloverleaf skull anomaly ; histopathologic diagnostic criteria ; Kleeblattschädel ; radiographic ; thanatophoric dysplasia</subject><ispartof>American journal of medical genetics, 1987, Vol.28 (S3), p.167-179</ispartof><rights>Copyright © 1987 Wiley‐Liss, Inc., A Wiley Company</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c2421-4c57b5881339ec181ef1d8fe5b27951fbd4917f36a2bcd01331655b2757cb0e13</citedby><cites>FETCH-LOGICAL-c2421-4c57b5881339ec181ef1d8fe5b27951fbd4917f36a2bcd01331655b2757cb0e13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,4022,27921,27922,27923</link.rule.ids></links><search><creatorcontrib>Langer Jr, Leonard O.</creatorcontrib><creatorcontrib>Yang, S. 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Only a very few type l cases have CS, and the CS is mild. Almost all type 2 cases have severe CS.</description><subject>bone dysplasia</subject><subject>cloverleaf skull anomaly</subject><subject>histopathologic diagnostic criteria</subject><subject>Kleeblattschädel</subject><subject>radiographic</subject><subject>thanatophoric dysplasia</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1987</creationdate><recordtype>article</recordtype><recordid>eNqFj0tLAzEUhYMoWKtrt_MDnDY3mUwSXJWi46MqQqXLkMkkdtq0U5L6mH_vlIriytWFc8934EPoHPAAMCZDvVi9DoASTARmBA5QD7DMU5ETcYh6GDKRciLlMTqJcYExdAHpoYvpXK_1ttnMm1CbpGrjxutY60Svq8T45t0Gb7VL4vLN-1N05LSP9uz79tHL9dV0fJNOnorb8WiSGpIRSDPDeMmEAEqlNSDAOqiEs6wkXDJwZZVJ4I7mmpSmwl0NcrZ7Mm5KbIH20XC_a0ITY7BObUK90qFVgNVOVu1k1a9sR1zuiY_a2_a_uhrdPRR_6HRP13FrP39oHZYq55QzNXssFL8vgE3Zs5rRL6Z_Z5A</recordid><startdate>1987</startdate><enddate>1987</enddate><creator>Langer Jr, Leonard O.</creator><creator>Yang, S. 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Samuel</creatorcontrib><creatorcontrib>Hall, Judith G.</creatorcontrib><creatorcontrib>Sommer, Annemarie</creatorcontrib><creatorcontrib>Kottamasu, Sambasiva R.</creatorcontrib><creatorcontrib>Golabi, Mahin</creatorcontrib><creatorcontrib>Krassikoff, Natalie</creatorcontrib><creatorcontrib>Opitz, John M.</creatorcontrib><creatorcontrib>Bernstein, Jay</creatorcontrib><collection>Istex</collection><collection>CrossRef</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Langer Jr, Leonard O.</au><au>Yang, S. Samuel</au><au>Hall, Judith G.</au><au>Sommer, Annemarie</au><au>Kottamasu, Sambasiva R.</au><au>Golabi, Mahin</au><au>Krassikoff, Natalie</au><au>Opitz, John M.</au><au>Bernstein, Jay</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Thanatophoric dysplasia and cloverleaf skull</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1987</date><risdate>1987</risdate><volume>28</volume><issue>S3</issue><spage>167</spage><epage>179</epage><pages>167-179</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><abstract>Nine infants with thanatophoric dysplasia (TD) and cloverleaf skull (CS) are reported. Twenty‐two previously published CSTD cases are reviewed. These CSTD cases are compared to cases of TD without CS. U is concluded that there are two types of TD: type l, with curved femora and very flat vertebral bodies; and type 2, with straight femora and taller vertebral bodies. Consistent but subtle histopathological characteris‐tics differentiate the two types. Only a very few type l cases have CS, and the CS is mild. Almost all type 2 cases have severe CS.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><doi>10.1002/ajmg.1320280521</doi><tpages>13</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0148-7299 |
| ispartof | American journal of medical genetics, 1987, Vol.28 (S3), p.167-179 |
| issn | 0148-7299 1096-8628 |
| language | eng |
| recordid | cdi_crossref_primary_10_1002_ajmg_1320280521 |
| source | Alma/SFX Local Collection |
| subjects | bone dysplasia cloverleaf skull anomaly histopathologic diagnostic criteria Kleeblattschädel radiographic thanatophoric dysplasia |
| title | Thanatophoric dysplasia and cloverleaf skull |
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