Mulibrey nanism
Investigation of a 4-year-old boy with 'Russell-Silver-phenotype' led to the relatively rare diagnosis of Mulibrey nanism. Subsequently cardiac investigation confirmed a constrictive pericarditis which is characteristic of this syndrome, although not included in the acronym (muscle, liver,...
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| Veröffentlicht in: | Clinical dysmorphology 1995-01, Vol.4 (1), p.63-69 |
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| container_title | Clinical dysmorphology |
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| creator | Balg, S Stengel-Rutkowski, S Döhlemann, C Boergen, K |
| description | Investigation of a 4-year-old boy with 'Russell-Silver-phenotype' led to the relatively rare diagnosis of Mulibrey nanism. Subsequently cardiac investigation confirmed a constrictive pericarditis which is characteristic of this syndrome, although not included in the acronym (muscle, liver, brain, eye). Identification of this syndrome is important for genetic counselling of the parents (25% recurrence risk, McKusick No. 253250). |
| doi_str_mv | 10.1097/00019605-199501000-00009 |
| format | Article |
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Subsequently cardiac investigation confirmed a constrictive pericarditis which is characteristic of this syndrome, although not included in the acronym (muscle, liver, brain, eye). Identification of this syndrome is important for genetic counselling of the parents (25% recurrence risk, McKusick No. 253250).</description><identifier>ISSN: 0962-8827</identifier><identifier>DOI: 10.1097/00019605-199501000-00009</identifier><identifier>PMID: 7735507</identifier><language>eng</language><publisher>England</publisher><subject>Child, Preschool ; Dwarfism - diagnosis ; Dwarfism - genetics ; Dwarfism - pathology ; Eye Abnormalities - genetics ; Face - abnormalities ; Humans ; Male ; Pericarditis, Constrictive - genetics ; Phenotype ; Syndrome</subject><ispartof>Clinical dysmorphology, 1995-01, Vol.4 (1), p.63-69</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c225t-8468c6d3a59608e3b6888653afcc3709c1d06abf2f7b6309105a9068eda9ee1e3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7735507$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Balg, S</creatorcontrib><creatorcontrib>Stengel-Rutkowski, S</creatorcontrib><creatorcontrib>Döhlemann, C</creatorcontrib><creatorcontrib>Boergen, K</creatorcontrib><title>Mulibrey nanism</title><title>Clinical dysmorphology</title><addtitle>Clin Dysmorphol</addtitle><description>Investigation of a 4-year-old boy with 'Russell-Silver-phenotype' led to the relatively rare diagnosis of Mulibrey nanism. Subsequently cardiac investigation confirmed a constrictive pericarditis which is characteristic of this syndrome, although not included in the acronym (muscle, liver, brain, eye). Identification of this syndrome is important for genetic counselling of the parents (25% recurrence risk, McKusick No. 253250).</description><subject>Child, Preschool</subject><subject>Dwarfism - diagnosis</subject><subject>Dwarfism - genetics</subject><subject>Dwarfism - pathology</subject><subject>Eye Abnormalities - genetics</subject><subject>Face - abnormalities</subject><subject>Humans</subject><subject>Male</subject><subject>Pericarditis, Constrictive - genetics</subject><subject>Phenotype</subject><subject>Syndrome</subject><issn>0962-8827</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9j01LAzEQhnNQaq3iLxB68hadJM3HHKX4BRUveg7Z7Cys7EdNuof-e9d27WEYBp53Xh7GlgLuBaB9AACBBjQXiBrEePJxAM_YHNBI7py0F-wy5-8DiHbGZtYqrcHO2c370NRFov2yC12d2yt2XoUm0_W0F-zr-elz_co3Hy9v68cNj1LqHXcr46IpVdBjsyNVGOec0SpUMSoLGEUJJhSVrGxhFKAAHRCMozIgkSC1YHfHv9vU_wyUd76tc6SmCR31Q_bWSg24ghF0RzCmPudEld-mug1p7wX4P3__7-9P_v7gP0Zvp46haKk8BSd59QssP1Ve</recordid><startdate>199501</startdate><enddate>199501</enddate><creator>Balg, S</creator><creator>Stengel-Rutkowski, S</creator><creator>Döhlemann, C</creator><creator>Boergen, K</creator><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>199501</creationdate><title>Mulibrey nanism</title><author>Balg, S ; Stengel-Rutkowski, S ; Döhlemann, C ; Boergen, K</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c225t-8468c6d3a59608e3b6888653afcc3709c1d06abf2f7b6309105a9068eda9ee1e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Child, Preschool</topic><topic>Dwarfism - diagnosis</topic><topic>Dwarfism - genetics</topic><topic>Dwarfism - pathology</topic><topic>Eye Abnormalities - genetics</topic><topic>Face - abnormalities</topic><topic>Humans</topic><topic>Male</topic><topic>Pericarditis, Constrictive - genetics</topic><topic>Phenotype</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Balg, S</creatorcontrib><creatorcontrib>Stengel-Rutkowski, S</creatorcontrib><creatorcontrib>Döhlemann, C</creatorcontrib><creatorcontrib>Boergen, K</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>Clinical dysmorphology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Balg, S</au><au>Stengel-Rutkowski, S</au><au>Döhlemann, C</au><au>Boergen, K</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mulibrey nanism</atitle><jtitle>Clinical dysmorphology</jtitle><addtitle>Clin Dysmorphol</addtitle><date>1995-01</date><risdate>1995</risdate><volume>4</volume><issue>1</issue><spage>63</spage><epage>69</epage><pages>63-69</pages><issn>0962-8827</issn><abstract>Investigation of a 4-year-old boy with 'Russell-Silver-phenotype' led to the relatively rare diagnosis of Mulibrey nanism. Subsequently cardiac investigation confirmed a constrictive pericarditis which is characteristic of this syndrome, although not included in the acronym (muscle, liver, brain, eye). Identification of this syndrome is important for genetic counselling of the parents (25% recurrence risk, McKusick No. 253250).</abstract><cop>England</cop><pmid>7735507</pmid><doi>10.1097/00019605-199501000-00009</doi><tpages>7</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0962-8827 |
| ispartof | Clinical dysmorphology, 1995-01, Vol.4 (1), p.63-69 |
| issn | 0962-8827 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_77250940 |
| source | MEDLINE; Journals@Ovid Complete |
| subjects | Child, Preschool Dwarfism - diagnosis Dwarfism - genetics Dwarfism - pathology Eye Abnormalities - genetics Face - abnormalities Humans Male Pericarditis, Constrictive - genetics Phenotype Syndrome |
| title | Mulibrey nanism |
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