Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report and review of the literature
Abstract Jacobsen syndrome is an uncommon but well-known contiguous gene syndrome caused by partial deletion involving the long arm of chromosome 11. Most common features include: psychomotor impairment, facial dysmorphism, and thrombocytopenia. Cleft palate has been rarely reported. A case of Jacob...
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| Veröffentlicht in: | International journal of pediatric otorhinolaryngology 2013-09, Vol.77 (9), p.1601-1605 |
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| container_title | International journal of pediatric otorhinolaryngology |
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| creator | Ysunza, Antonio Shaheen, Kenneth Aughton, David J Micale, Mark A Merson, Richard Rutkowski, Kris |
| description | Abstract Jacobsen syndrome is an uncommon but well-known contiguous gene syndrome caused by partial deletion involving the long arm of chromosome 11. Most common features include: psychomotor impairment, facial dysmorphism, and thrombocytopenia. Cleft palate has been rarely reported. A case of Jacobsen syndrome confirmed by cytogenomic analysis is presented with review of the literature. Main clinical features were phonological disorder, submucous cleft palate (SMCP) and velopharyngeal insufficiency (VPI). VPI was corrected surgically according to findings of videonasopharyngoscopy and videofluoroscopy. It is concluded that clinicians should consider that VPI associated with SMCP may be the main manifestations of a chromosomal syndrome. |
| doi_str_mv | 10.1016/j.ijporl.2013.06.007 |
| format | Article |
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VPI was corrected surgically according to findings of videonasopharyngoscopy and videofluoroscopy. It is concluded that clinicians should consider that VPI associated with SMCP may be the main manifestations of a chromosomal syndrome.</description><identifier>ISSN: 0165-5876</identifier><identifier>EISSN: 1872-8464</identifier><identifier>DOI: 10.1016/j.ijporl.2013.06.007</identifier><identifier>PMID: 23815883</identifier><language>eng</language><publisher>Ireland: Elsevier Ireland Ltd</publisher><subject>Articulation Disorders - diagnosis ; Articulation Disorders - therapy ; Child ; Cineradiography - methods ; Cleft palate ; Cleft Palate - diagnosis ; Cleft Palate - surgery ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Humans ; Jacobsen Distal 11q Deletion Syndrome - diagnosis ; Jacobsen Distal 11q Deletion Syndrome - therapy ; Jacobsen syndrome ; Laryngoscopy - methods ; Otolaryngology ; Pediatrics ; Rare Diseases ; Speech ; Surgery ; Velopharyngeal Insufficiency - diagnosis ; Velopharyngeal Insufficiency - diagnostic imaging ; Velopharyngeal Insufficiency - surgery</subject><ispartof>International journal of pediatric otorhinolaryngology, 2013-09, Vol.77 (9), p.1601-1605</ispartof><rights>Elsevier Ireland Ltd</rights><rights>2013 Elsevier Ireland Ltd</rights><rights>Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c417t-46ef418350180da1a6be7e8cabe4db340787170e311f1a74ff5bedf42b0147fd3</citedby><cites>FETCH-LOGICAL-c417t-46ef418350180da1a6be7e8cabe4db340787170e311f1a74ff5bedf42b0147fd3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.ijporl.2013.06.007$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>315,782,786,3552,27931,27932,46002</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23815883$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ysunza, Antonio</creatorcontrib><creatorcontrib>Shaheen, Kenneth</creatorcontrib><creatorcontrib>Aughton, David J</creatorcontrib><creatorcontrib>Micale, Mark A</creatorcontrib><creatorcontrib>Merson, Richard</creatorcontrib><creatorcontrib>Rutkowski, Kris</creatorcontrib><title>Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report and review of the literature</title><title>International journal of pediatric otorhinolaryngology</title><addtitle>Int J Pediatr Otorhinolaryngol</addtitle><description>Abstract Jacobsen syndrome is an uncommon but well-known contiguous gene syndrome caused by partial deletion involving the long arm of chromosome 11. Most common features include: psychomotor impairment, facial dysmorphism, and thrombocytopenia. Cleft palate has been rarely reported. A case of Jacobsen syndrome confirmed by cytogenomic analysis is presented with review of the literature. Main clinical features were phonological disorder, submucous cleft palate (SMCP) and velopharyngeal insufficiency (VPI). VPI was corrected surgically according to findings of videonasopharyngoscopy and videofluoroscopy. It is concluded that clinicians should consider that VPI associated with SMCP may be the main manifestations of a chromosomal syndrome.</description><subject>Articulation Disorders - diagnosis</subject><subject>Articulation Disorders - therapy</subject><subject>Child</subject><subject>Cineradiography - methods</subject><subject>Cleft palate</subject><subject>Cleft Palate - diagnosis</subject><subject>Cleft Palate - surgery</subject><subject>Diagnosis, Differential</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Humans</subject><subject>Jacobsen Distal 11q Deletion Syndrome - diagnosis</subject><subject>Jacobsen Distal 11q Deletion Syndrome - therapy</subject><subject>Jacobsen syndrome</subject><subject>Laryngoscopy - methods</subject><subject>Otolaryngology</subject><subject>Pediatrics</subject><subject>Rare Diseases</subject><subject>Speech</subject><subject>Surgery</subject><subject>Velopharyngeal Insufficiency - diagnosis</subject><subject>Velopharyngeal Insufficiency - diagnostic imaging</subject><subject>Velopharyngeal Insufficiency - surgery</subject><issn>0165-5876</issn><issn>1872-8464</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFks2O0zAURiMEYsrAGyDkJQsa7MSJvUJC1cCARmLBz9Zy7OvWxbWDb8KoL8kzjdPOsGDDyguf7175O66ql4zWjLL-7b72-zHlUDeUtTXta0rFo2rFpGjWkvf8cbUqWLfupOgvqmeIe0qZoF33tLpoWsk6KdtV9ecHhDTudD7GLehAfMTZOW88RHN8Q3AeDrNJMxITwE1k1EFPQHS0RJNxl2IKaetNCVqPKVvIRCOZdgVBTMYX2JaojyfGgZ7mDEhud97sSCh3UzrR1uttTOiRJEc-a5MGhEjwGG1OB6jJRiOQDOW902l5ht8ebhd4SQc_QT6Nfl49cTogvLg_L6vvH66-ba7XN18-ftq8v1kbzsS05j04zmTbUSap1Uz3AwiQRg_A7dByKqQoXUHLmGNacOe6AazjzUAZF862l9Xr89wxp18z4KQOHg2EoCOUthTjjWxE0wtaUH5GTU6IGZwasz-UwhWjajGp9upsUi0mFe1VMVlir-43FAVg_4Ye1BXg3RmA8s7SRlZ4sgbWZzCTssn_b8O_Ax5E_YQj4D7NOZYOFVPYKKq-Lr9p-UyspbSRfdveAZcsy_w</recordid><startdate>20130901</startdate><enddate>20130901</enddate><creator>Ysunza, Antonio</creator><creator>Shaheen, Kenneth</creator><creator>Aughton, David J</creator><creator>Micale, Mark A</creator><creator>Merson, Richard</creator><creator>Rutkowski, Kris</creator><general>Elsevier Ireland Ltd</general><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>20130901</creationdate><title>Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report and review of the literature</title><author>Ysunza, Antonio ; Shaheen, Kenneth ; Aughton, David J ; Micale, Mark A ; Merson, Richard ; Rutkowski, Kris</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c417t-46ef418350180da1a6be7e8cabe4db340787170e311f1a74ff5bedf42b0147fd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Articulation Disorders - diagnosis</topic><topic>Articulation Disorders - therapy</topic><topic>Child</topic><topic>Cineradiography - methods</topic><topic>Cleft palate</topic><topic>Cleft Palate - diagnosis</topic><topic>Cleft Palate - surgery</topic><topic>Diagnosis, Differential</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>Humans</topic><topic>Jacobsen Distal 11q Deletion Syndrome - diagnosis</topic><topic>Jacobsen Distal 11q Deletion Syndrome - therapy</topic><topic>Jacobsen syndrome</topic><topic>Laryngoscopy - methods</topic><topic>Otolaryngology</topic><topic>Pediatrics</topic><topic>Rare Diseases</topic><topic>Speech</topic><topic>Surgery</topic><topic>Velopharyngeal Insufficiency - diagnosis</topic><topic>Velopharyngeal Insufficiency - diagnostic imaging</topic><topic>Velopharyngeal Insufficiency - surgery</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ysunza, Antonio</creatorcontrib><creatorcontrib>Shaheen, Kenneth</creatorcontrib><creatorcontrib>Aughton, David J</creatorcontrib><creatorcontrib>Micale, Mark A</creatorcontrib><creatorcontrib>Merson, Richard</creatorcontrib><creatorcontrib>Rutkowski, Kris</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>International journal of pediatric otorhinolaryngology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ysunza, Antonio</au><au>Shaheen, Kenneth</au><au>Aughton, David J</au><au>Micale, Mark A</au><au>Merson, Richard</au><au>Rutkowski, Kris</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report and review of the literature</atitle><jtitle>International journal of pediatric otorhinolaryngology</jtitle><addtitle>Int J Pediatr Otorhinolaryngol</addtitle><date>2013-09-01</date><risdate>2013</risdate><volume>77</volume><issue>9</issue><spage>1601</spage><epage>1605</epage><pages>1601-1605</pages><issn>0165-5876</issn><eissn>1872-8464</eissn><abstract>Abstract Jacobsen syndrome is an uncommon but well-known contiguous gene syndrome caused by partial deletion involving the long arm of chromosome 11. Most common features include: psychomotor impairment, facial dysmorphism, and thrombocytopenia. Cleft palate has been rarely reported. A case of Jacobsen syndrome confirmed by cytogenomic analysis is presented with review of the literature. Main clinical features were phonological disorder, submucous cleft palate (SMCP) and velopharyngeal insufficiency (VPI). VPI was corrected surgically according to findings of videonasopharyngoscopy and videofluoroscopy. It is concluded that clinicians should consider that VPI associated with SMCP may be the main manifestations of a chromosomal syndrome.</abstract><cop>Ireland</cop><pub>Elsevier Ireland Ltd</pub><pmid>23815883</pmid><doi>10.1016/j.ijporl.2013.06.007</doi><tpages>5</tpages></addata></record> |
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| ispartof | International journal of pediatric otorhinolaryngology, 2013-09, Vol.77 (9), p.1601-1605 |
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| subjects | Articulation Disorders - diagnosis Articulation Disorders - therapy Child Cineradiography - methods Cleft palate Cleft Palate - diagnosis Cleft Palate - surgery Diagnosis, Differential Female Follow-Up Studies Humans Jacobsen Distal 11q Deletion Syndrome - diagnosis Jacobsen Distal 11q Deletion Syndrome - therapy Jacobsen syndrome Laryngoscopy - methods Otolaryngology Pediatrics Rare Diseases Speech Surgery Velopharyngeal Insufficiency - diagnosis Velopharyngeal Insufficiency - diagnostic imaging Velopharyngeal Insufficiency - surgery |
| title | Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report and review of the literature |
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