Splenogonadal fusion‐limb defect “syndrome” and associated malformations
Two types of splenogonadal fusion (SGF) have been proposed. In the continuous type the spleen is connected to the gonad, and often it is associated with limb defects and other anomalies such as micrognathia, microglossia, anal atresia, and hypoplastic lungs. Associated abnormalities are lower in the...
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| Veröffentlicht in: | American journal of medical genetics 2003-08, Vol.120A (4), p.518-522 |
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| creator | McPherson, Fiona Frias, Jaime L. Spicer, Diane Opitz, John M. Gilbert‐Barness, Enid F. |
| description | Two types of splenogonadal fusion (SGF) have been proposed. In the continuous type the spleen is connected to the gonad, and often it is associated with limb defects and other anomalies such as micrognathia, microglossia, anal atresia, and hypoplastic lungs. Associated abnormalities are lower in the discontinuous type of SGF, where there is fusion between the gonad and accessory splenic tissue, without connection with the normal spleen. The cause of SGF and SGF with limb defects (SGFLD) is unknown. On the basis of associated orofacial limb abnormalities, some authors have suggested that SGFLD may be related to the Hanhart complex. Others have noted the overlap between SGFLD and femoral‐facial syndrome (FFS). We consider SGFLD a developmental field defect that originates during blastogenesis. Although the cause is unknown, the earlier its action, the more severe the involvement resulting in SGFLD; later action may result only in SGF. © 2003 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.10728 |
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In the continuous type the spleen is connected to the gonad, and often it is associated with limb defects and other anomalies such as micrognathia, microglossia, anal atresia, and hypoplastic lungs. Associated abnormalities are lower in the discontinuous type of SGF, where there is fusion between the gonad and accessory splenic tissue, without connection with the normal spleen. The cause of SGF and SGF with limb defects (SGFLD) is unknown. On the basis of associated orofacial limb abnormalities, some authors have suggested that SGFLD may be related to the Hanhart complex. Others have noted the overlap between SGFLD and femoral‐facial syndrome (FFS). We consider SGFLD a developmental field defect that originates during blastogenesis. 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In the continuous type the spleen is connected to the gonad, and often it is associated with limb defects and other anomalies such as micrognathia, microglossia, anal atresia, and hypoplastic lungs. Associated abnormalities are lower in the discontinuous type of SGF, where there is fusion between the gonad and accessory splenic tissue, without connection with the normal spleen. The cause of SGF and SGF with limb defects (SGFLD) is unknown. On the basis of associated orofacial limb abnormalities, some authors have suggested that SGFLD may be related to the Hanhart complex. Others have noted the overlap between SGFLD and femoral‐facial syndrome (FFS). We consider SGFLD a developmental field defect that originates during blastogenesis. Although the cause is unknown, the earlier its action, the more severe the involvement resulting in SGFLD; later action may result only in SGF. © 2003 Wiley‐Liss, Inc.</description><subject>Abnormalities, Multiple - embryology</subject><subject>Abnormalities, Multiple - genetics</subject><subject>Biological and medical sciences</subject><subject>Complex syndromes</subject><subject>Craniofacial Abnormalities - embryology</subject><subject>defect of blastogenesis</subject><subject>Female</subject><subject>femoral‐facial syndrome</subject><subject>Fetus - diagnostic imaging</subject><subject>Gonads - abnormalities</subject><subject>hanhart syndrome</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>limb defects</subject><subject>Limb Deformities, Congenital - embryology</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Radiography</subject><subject>Spleen - abnormalities</subject><subject>splenogonadal fusion</subject><subject>Syndrome</subject><issn>1552-4825</issn><issn>0148-7299</issn><issn>1552-4833</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0LtOwzAUBmALgWgpbMwoC0y0-JbEGasKCqjAAMyWYx9XqZK4xI1Qtz4CDwAv1ychpRHdYDpn-M5FP0KnBA8IxvRKzYrpQDV9TMUe6pIwpH0uGNv_7WnYQUfezzBmOIyjQ9QhVAjOGemix-d5DqWbulIZlQe29pkr16uPPCvSwIAFvQjWq0-_LE3lClivvgJVmkB573SmFmCCQuXWVYVaNIP-GB1YlXs4aWsPvd5cv4xu-5On8d1oOOlrTonoR1ZAhHmorU5IaiKD0yjhOtLUAPBEMGsIYyAMSyzHkGKdmFgwQiMe06T5vIcutnvnlXurwS9kkXkNea5KcLWXMQsp5uJ_SLEQYUQ28HILdeW8r8DKeZUVqlpKguUmaLkJWir5E3TDz9q9dVqA2eE22Qact0B53URUqVJnfudCzGIcx41jW_ee5bD886gc3j-Mt-e_AR8vma0</recordid><startdate>20030801</startdate><enddate>20030801</enddate><creator>McPherson, Fiona</creator><creator>Frias, Jaime L.</creator><creator>Spicer, Diane</creator><creator>Opitz, John M.</creator><creator>Gilbert‐Barness, Enid F.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20030801</creationdate><title>Splenogonadal fusion‐limb defect “syndrome” and associated malformations</title><author>McPherson, Fiona ; Frias, Jaime L. ; Spicer, Diane ; Opitz, John M. ; Gilbert‐Barness, Enid F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4218-6f8e6045cfc91bd6d0b694c6c2dee4983fd133e8d39f40eb0c9d7831264729443</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Abnormalities, Multiple - embryology</topic><topic>Abnormalities, Multiple - genetics</topic><topic>Biological and medical sciences</topic><topic>Complex syndromes</topic><topic>Craniofacial Abnormalities - embryology</topic><topic>defect of blastogenesis</topic><topic>Female</topic><topic>femoral‐facial syndrome</topic><topic>Fetus - diagnostic imaging</topic><topic>Gonads - abnormalities</topic><topic>hanhart syndrome</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>limb defects</topic><topic>Limb Deformities, Congenital - embryology</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Radiography</topic><topic>Spleen - abnormalities</topic><topic>splenogonadal fusion</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>McPherson, Fiona</creatorcontrib><creatorcontrib>Frias, Jaime L.</creatorcontrib><creatorcontrib>Spicer, Diane</creatorcontrib><creatorcontrib>Opitz, John M.</creatorcontrib><creatorcontrib>Gilbert‐Barness, Enid F.</creatorcontrib><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>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>McPherson, Fiona</au><au>Frias, Jaime L.</au><au>Spicer, Diane</au><au>Opitz, John M.</au><au>Gilbert‐Barness, Enid F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Splenogonadal fusion‐limb defect “syndrome” and associated malformations</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am J Med Genet A</addtitle><date>2003-08-01</date><risdate>2003</risdate><volume>120A</volume><issue>4</issue><spage>518</spage><epage>522</epage><pages>518-522</pages><issn>1552-4825</issn><issn>0148-7299</issn><eissn>1552-4833</eissn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>Two types of splenogonadal fusion (SGF) have been proposed. In the continuous type the spleen is connected to the gonad, and often it is associated with limb defects and other anomalies such as micrognathia, microglossia, anal atresia, and hypoplastic lungs. Associated abnormalities are lower in the discontinuous type of SGF, where there is fusion between the gonad and accessory splenic tissue, without connection with the normal spleen. The cause of SGF and SGF with limb defects (SGFLD) is unknown. On the basis of associated orofacial limb abnormalities, some authors have suggested that SGFLD may be related to the Hanhart complex. Others have noted the overlap between SGFLD and femoral‐facial syndrome (FFS). We consider SGFLD a developmental field defect that originates during blastogenesis. Although the cause is unknown, the earlier its action, the more severe the involvement resulting in SGFLD; later action may result only in SGF. © 2003 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>12884431</pmid><doi>10.1002/ajmg.a.10728</doi><tpages>5</tpages></addata></record> |
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| subjects | Abnormalities, Multiple - embryology Abnormalities, Multiple - genetics Biological and medical sciences Complex syndromes Craniofacial Abnormalities - embryology defect of blastogenesis Female femoral‐facial syndrome Fetus - diagnostic imaging Gonads - abnormalities hanhart syndrome Humans Infant, Newborn limb defects Limb Deformities, Congenital - embryology Male Medical genetics Medical sciences Radiography Spleen - abnormalities splenogonadal fusion Syndrome |
| title | Splenogonadal fusion‐limb defect “syndrome” and associated malformations |
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