Thanatophoric Dysplasia: A Rare Entity
Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. The child will be having a short neck, narrow thoracic cage and protuberant abdomen. Other anatomical features include a relatively enlarged head with frontal bo...
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| Veröffentlicht in: | Oman medical journal 2011-05, Vol.26 (3), p.196-197 |
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| creator | Naveen , N. S Murlimanju , B. V Kumar , Vishal |
| description | Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. The child will be having a short neck, narrow thoracic cage and protuberant abdomen. Other anatomical features include a relatively enlarged head with frontal bossing, prominent eyes, hypertelorism and the depressed nasal bridge. The diagnosis is usually made with the ultrasonography in the second trimester. In this study we report a case of this rare entity with emphasis on its anatomical features, abnormalities and clinical profile with relevant review of literature. |
| doi_str_mv | 10.5001/omj.2011.47 |
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In this study we report a case of this rare entity with emphasis on its anatomical features, abnormalities and clinical profile with relevant review of literature.</description><identifier>ISSN: 1999-768X</identifier><identifier>ISSN: 2070-5204</identifier><identifier>EISSN: 2070-5204</identifier><identifier>DOI: 10.5001/omj.2011.47</identifier><identifier>PMID: 22043415</identifier><language>eng</language><publisher>Muscat - Oman: Oman Medical Specialty Board</publisher><subject>Case Report ; DISTORTION ; Fetus ; FGFR3 ; GROWTH DISORDERS ; LYMPHOCYTES ; PREGNANCY ; RESPIRATORY DISEASES ; Thanatophoric dysplasia ; Ultrasound ; ULTRASOUND IMAGING ; أمراض التنفس ; الإضطرابات النمائية ; التشوهات الخلقية ; التصوير فوق الصوتي ; الحمل ; اللمفاويات</subject><ispartof>Oman medical journal, 2011-05, Vol.26 (3), p.196-197</ispartof><rights>2011 Oman Medical Specialty Board</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-a3517-a41e13212ef70d7d78c4a3dfd3211e933a54a39557c37debed8aefc961932fb33</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Uhttps://static.almanhal.com/covers/titl/18957/cover-lg.jpg</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3191698/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3191698/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2095,27903,27904,53770,53772</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22043415$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Naveen , N. 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In this study we report a case of this rare entity with emphasis on its anatomical features, abnormalities and clinical profile with relevant review of literature.</description><subject>Case Report</subject><subject>DISTORTION</subject><subject>Fetus</subject><subject>FGFR3</subject><subject>GROWTH DISORDERS</subject><subject>LYMPHOCYTES</subject><subject>PREGNANCY</subject><subject>RESPIRATORY DISEASES</subject><subject>Thanatophoric dysplasia</subject><subject>Ultrasound</subject><subject>ULTRASOUND IMAGING</subject><subject>أمراض التنفس</subject><subject>الإضطرابات النمائية</subject><subject>التشوهات الخلقية</subject><subject>التصوير فوق الصوتي</subject><subject>الحمل</subject><subject>اللمفاويات</subject><issn>1999-768X</issn><issn>2070-5204</issn><issn>2070-5204</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>DOA</sourceid><recordid>eNpVkM9LwzAUx4MobsydPHhSvEtnfjbJRZD5azDwMsFbeE3StaNtRjuF_fdmVseWS8h7n3ze44vQJcETgTG5D_VqQjEhEy5P0JBiiRNBMT9FQ6K1TmSqPgdo3HUrHA_TVDN6jgY0IowTMURXiwIa2IR1EdrS3j5tu3UFXQkX6CyHqvPjv3uEPl6eF9O3ZP7-Ops-zhNggsgEOPGEUUJ9LrGTTirLgbncxRrxmjEQ8a2FkJZJ5zPvFPjc6pTERfKMsRGa9V4XYGXWbVlDuzUBSvNbCO3SQLspbeVNrjNrleRWe8W9TEEqloLC1qaag6PR9dC71l9Z7Z31zaaF6kh63GnKwizDt2FEk1SrKLjrBbYNXdf6fP-XYLOL28S4zS5uw2Wkbw7H7dn_cCNw3QNQ1dAUB6sQpYVkP5KRhLs</recordid><startdate>20110501</startdate><enddate>20110501</enddate><creator>Naveen , N. 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V</au><au>Kumar , Vishal</au><aucorp>Jeeyar H</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Thanatophoric Dysplasia: A Rare Entity</atitle><jtitle>Oman medical journal</jtitle><addtitle>Oman Med J</addtitle><date>2011-05-01</date><risdate>2011</risdate><volume>26</volume><issue>3</issue><spage>196</spage><epage>197</epage><pages>196-197</pages><issn>1999-768X</issn><issn>2070-5204</issn><eissn>2070-5204</eissn><abstract>Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. The child will be having a short neck, narrow thoracic cage and protuberant abdomen. Other anatomical features include a relatively enlarged head with frontal bossing, prominent eyes, hypertelorism and the depressed nasal bridge. The diagnosis is usually made with the ultrasonography in the second trimester. In this study we report a case of this rare entity with emphasis on its anatomical features, abnormalities and clinical profile with relevant review of literature.</abstract><cop>Muscat - Oman</cop><pub>Oman Medical Specialty Board</pub><pmid>22043415</pmid><doi>10.5001/omj.2011.47</doi><tpages>2</tpages><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 1999-768X |
| ispartof | Oman medical journal, 2011-05, Vol.26 (3), p.196-197 |
| issn | 1999-768X 2070-5204 2070-5204 |
| language | eng |
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| source | DOAJ Directory of Open Access Journals; EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | Case Report DISTORTION Fetus FGFR3 GROWTH DISORDERS LYMPHOCYTES PREGNANCY RESPIRATORY DISEASES Thanatophoric dysplasia Ultrasound ULTRASOUND IMAGING أمراض التنفس الإضطرابات النمائية التشوهات الخلقية التصوير فوق الصوتي الحمل اللمفاويات |
| title | Thanatophoric Dysplasia: A Rare Entity |
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