The Costello syndrome
In 1971 and again in 1977, Costello reported on two unrelated children with multiple congenital malformations associated with growth and developmental retardation and nasal papillomata (Costello, NZ Med J 74:397, 1971; Costello, Aust Paediatr J 13:114–118, 1977). Subsequently, two similar cases were...
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| Veröffentlicht in: | American journal of medical genetics 1993-08, Vol.47 (2), p.163-165 |
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| container_title | American journal of medical genetics |
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| creator | Say, Burhan Güçsavaş, Müge Morgan, Harley York, Cindy |
| description | In 1971 and again in 1977, Costello reported on two unrelated children with multiple congenital malformations associated with growth and developmental retardation and nasal papillomata (Costello, NZ Med J 74:397, 1971; Costello, Aust Paediatr J 13:114–118, 1977). Subsequently, two similar cases were described (Der Kaloustian et al., Am J Med Genet 41:69–73, 1991; Martin and Jones, Am J Med Genet 41:346–349,1991). Costello syndrome is now a distinct entity. We describe another patient who additionally had hitherto unreported malformations, such as hydrocephalus, seizures, atrial fibrillation, and flutter with atrial septal defect. Although no nasal lesions were found he had laryngeal papillomata associated with a congenital web. A skin biopsy showed no evidence of lipid or mucopolysaccharide storage disease and muscle biopsy was normal by gross and electron microscopic examination. © 1993 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.1320470203 |
| format | Article |
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Subsequently, two similar cases were described (Der Kaloustian et al., Am J Med Genet 41:69–73, 1991; Martin and Jones, Am J Med Genet 41:346–349,1991). Costello syndrome is now a distinct entity. We describe another patient who additionally had hitherto unreported malformations, such as hydrocephalus, seizures, atrial fibrillation, and flutter with atrial septal defect. Although no nasal lesions were found he had laryngeal papillomata associated with a congenital web. A skin biopsy showed no evidence of lipid or mucopolysaccharide storage disease and muscle biopsy was normal by gross and electron microscopic examination. © 1993 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320470203</identifier><identifier>PMID: 8213897</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple ; Biological and medical sciences ; Child, Preschool ; Complex syndromes ; Costello syndrome ; Dwarfism ; Face - abnormalities ; growth and developmental retardation ; Hair - abnormalities ; Heart Septal Defects, Atrial ; Humans ; Hydrocephalus ; Intellectual Disability ; Joint Instability ; Laryngeal Neoplasms ; Male ; Medical genetics ; Medical sciences ; Papilloma ; papillomata ; Seizures ; Skin Abnormalities ; Syndrome</subject><ispartof>American journal of medical genetics, 1993-08, Vol.47 (2), p.163-165</ispartof><rights>Copyright © 1993 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1993 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4403-fafbe0a8258ff9644a4800e368dcaff6f50915997383f884e31ae24575a9069c3</citedby><cites>FETCH-LOGICAL-c4403-fafbe0a8258ff9644a4800e368dcaff6f50915997383f884e31ae24575a9069c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4876578$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8213897$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Say, Burhan</creatorcontrib><creatorcontrib>Güçsavaş, Müge</creatorcontrib><creatorcontrib>Morgan, Harley</creatorcontrib><creatorcontrib>York, Cindy</creatorcontrib><title>The Costello syndrome</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>In 1971 and again in 1977, Costello reported on two unrelated children with multiple congenital malformations associated with growth and developmental retardation and nasal papillomata (Costello, NZ Med J 74:397, 1971; Costello, Aust Paediatr J 13:114–118, 1977). Subsequently, two similar cases were described (Der Kaloustian et al., Am J Med Genet 41:69–73, 1991; Martin and Jones, Am J Med Genet 41:346–349,1991). Costello syndrome is now a distinct entity. We describe another patient who additionally had hitherto unreported malformations, such as hydrocephalus, seizures, atrial fibrillation, and flutter with atrial septal defect. Although no nasal lesions were found he had laryngeal papillomata associated with a congenital web. A skin biopsy showed no evidence of lipid or mucopolysaccharide storage disease and muscle biopsy was normal by gross and electron microscopic examination. © 1993 Wiley‐Liss, Inc.</description><subject>Abnormalities, Multiple</subject><subject>Biological and medical sciences</subject><subject>Child, Preschool</subject><subject>Complex syndromes</subject><subject>Costello syndrome</subject><subject>Dwarfism</subject><subject>Face - abnormalities</subject><subject>growth and developmental retardation</subject><subject>Hair - abnormalities</subject><subject>Heart Septal Defects, Atrial</subject><subject>Humans</subject><subject>Hydrocephalus</subject><subject>Intellectual Disability</subject><subject>Joint Instability</subject><subject>Laryngeal Neoplasms</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Papilloma</subject><subject>papillomata</subject><subject>Seizures</subject><subject>Skin Abnormalities</subject><subject>Syndrome</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkM1PAjEQxRujQUSPxpOJB-NtYfqx_YgnQgQ1iDFBPTZlaXVxl8UWovz3lizBePI0yczvzbx5CJ1haGMA0jGz8q2NKQEmgADdQ00MiieSE7mPmoCZTARR6hAdhTADwLFBGqghCaZSiSY6Hb_bi14VlrYoqouwnk99VdpjdOBMEezJtrbQc_9m3LtNho-Du153mGSMAU2ccRMLRpJUOqc4Y4ZJAEu5nGbGOe5SUDhVSlBJnZTMUmwsYalIjQKuMtpCV_Xeha8-VzYsdZmHLFoxc1utghYcomcuItipwcxXIXjr9MLnpfFrjUFvgtCbIPRvEFFxvl29mpR2uuO3n8f55XZuQmYK5808y8MOY1LwVMiIXdfYV17Y9X9Xdff-YfDHRFKr8xjw905t_IeOT4lUv44GmvCnF9mnI63oD4YUg38</recordid><startdate>19930815</startdate><enddate>19930815</enddate><creator>Say, Burhan</creator><creator>Güçsavaş, Müge</creator><creator>Morgan, Harley</creator><creator>York, Cindy</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>BSCLL</scope><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>7X8</scope></search><sort><creationdate>19930815</creationdate><title>The Costello syndrome</title><author>Say, Burhan ; Güçsavaş, Müge ; Morgan, Harley ; York, Cindy</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4403-fafbe0a8258ff9644a4800e368dcaff6f50915997383f884e31ae24575a9069c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>Abnormalities, Multiple</topic><topic>Biological and medical sciences</topic><topic>Child, Preschool</topic><topic>Complex syndromes</topic><topic>Costello syndrome</topic><topic>Dwarfism</topic><topic>Face - abnormalities</topic><topic>growth and developmental retardation</topic><topic>Hair - abnormalities</topic><topic>Heart Septal Defects, Atrial</topic><topic>Humans</topic><topic>Hydrocephalus</topic><topic>Intellectual Disability</topic><topic>Joint Instability</topic><topic>Laryngeal Neoplasms</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Papilloma</topic><topic>papillomata</topic><topic>Seizures</topic><topic>Skin Abnormalities</topic><topic>Syndrome</topic><toplevel>online_resources</toplevel><creatorcontrib>Say, Burhan</creatorcontrib><creatorcontrib>Güçsavaş, Müge</creatorcontrib><creatorcontrib>Morgan, Harley</creatorcontrib><creatorcontrib>York, Cindy</creatorcontrib><collection>Istex</collection><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>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Say, Burhan</au><au>Güçsavaş, Müge</au><au>Morgan, Harley</au><au>York, Cindy</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The Costello syndrome</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1993-08-15</date><risdate>1993</risdate><volume>47</volume><issue>2</issue><spage>163</spage><epage>165</epage><pages>163-165</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>In 1971 and again in 1977, Costello reported on two unrelated children with multiple congenital malformations associated with growth and developmental retardation and nasal papillomata (Costello, NZ Med J 74:397, 1971; Costello, Aust Paediatr J 13:114–118, 1977). Subsequently, two similar cases were described (Der Kaloustian et al., Am J Med Genet 41:69–73, 1991; Martin and Jones, Am J Med Genet 41:346–349,1991). Costello syndrome is now a distinct entity. We describe another patient who additionally had hitherto unreported malformations, such as hydrocephalus, seizures, atrial fibrillation, and flutter with atrial septal defect. Although no nasal lesions were found he had laryngeal papillomata associated with a congenital web. A skin biopsy showed no evidence of lipid or mucopolysaccharide storage disease and muscle biopsy was normal by gross and electron microscopic examination. © 1993 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>8213897</pmid><doi>10.1002/ajmg.1320470203</doi><tpages>3</tpages></addata></record> |
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| ispartof | American journal of medical genetics, 1993-08, Vol.47 (2), p.163-165 |
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| language | eng |
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| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Abnormalities, Multiple Biological and medical sciences Child, Preschool Complex syndromes Costello syndrome Dwarfism Face - abnormalities growth and developmental retardation Hair - abnormalities Heart Septal Defects, Atrial Humans Hydrocephalus Intellectual Disability Joint Instability Laryngeal Neoplasms Male Medical genetics Medical sciences Papilloma papillomata Seizures Skin Abnormalities Syndrome |
| title | The Costello syndrome |
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