Popliteal pterygium syndrome
A syndrome of popliteal pterygium, cleft lip-palate, lower lip pits, eyelid adhesions, genito-urinary anomalies and digital anomalies is presented as the Popliteal pterygium syndrome. The hereditary pattern appears to be an autosomal dominant trait with incomplete penetrance and variable expressivit...
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| Veröffentlicht in: | International journal of pediatric otorhinolaryngology 1988-02, Vol.15 (1), p.17-22 |
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| container_title | International journal of pediatric otorhinolaryngology |
| container_volume | 15 |
| creator | Deskin, Ronald W. Drew G., Sawyer |
| description | A syndrome of popliteal pterygium, cleft lip-palate, lower lip pits, eyelid adhesions, genito-urinary anomalies and digital anomalies is presented as the Popliteal pterygium syndrome. The hereditary pattern appears to be an autosomal dominant trait with incomplete penetrance and variable expressivity. The pediatric otolaryngologist should be alert to this syndrome and will be consulted for airway and feeding problems as well as speech and hearing management. Because of the wide variability of expression of popliteal pterygium syndrome, careful physical evaluation of available family members should be made in sporadic cases to confirm the diagnosis in those presenting with minor manifestations and to discover less severely affected relatives of those with full expression. Appropriate genetic counseling can then be given to these families. |
| doi_str_mv | 10.1016/0165-5876(88)90046-8 |
| format | Article |
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The hereditary pattern appears to be an autosomal dominant trait with incomplete penetrance and variable expressivity. The pediatric otolaryngologist should be alert to this syndrome and will be consulted for airway and feeding problems as well as speech and hearing management. Because of the wide variability of expression of popliteal pterygium syndrome, careful physical evaluation of available family members should be made in sporadic cases to confirm the diagnosis in those presenting with minor manifestations and to discover less severely affected relatives of those with full expression. Appropriate genetic counseling can then be given to these families.</description><identifier>ISSN: 0165-5876</identifier><identifier>EISSN: 1872-8464</identifier><identifier>DOI: 10.1016/0165-5876(88)90046-8</identifier><identifier>PMID: 3372139</identifier><identifier>CODEN: IPOTDJ</identifier><language>eng</language><publisher>Amsterdam: Elsevier Ireland Ltd</publisher><subject>Abnormalities, Multiple - genetics ; Biological and medical sciences ; Cleft Lip ; Cleft Palate ; Complex syndromes ; Eyelids - abnormalities ; Female ; Humans ; Infant, Newborn ; Leg - abnormalities ; Medical genetics ; Medical sciences ; Nails, Malformed ; Popliteal pterygiura syndrome ; Syndrome</subject><ispartof>International journal of pediatric otorhinolaryngology, 1988-02, Vol.15 (1), p.17-22</ispartof><rights>1988</rights><rights>1988 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c386t-e27c53669c39561c59b3a311ce3207beb0fbddb9feb1a64f6074dc7d07b5ebde3</citedby><cites>FETCH-LOGICAL-c386t-e27c53669c39561c59b3a311ce3207beb0fbddb9feb1a64f6074dc7d07b5ebde3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/0165587688900468$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=7799777$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/3372139$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Deskin, Ronald W.</creatorcontrib><creatorcontrib>Drew G., Sawyer</creatorcontrib><title>Popliteal pterygium syndrome</title><title>International journal of pediatric otorhinolaryngology</title><addtitle>Int J Pediatr Otorhinolaryngol</addtitle><description>A syndrome of popliteal pterygium, cleft lip-palate, lower lip pits, eyelid adhesions, genito-urinary anomalies and digital anomalies is presented as the Popliteal pterygium syndrome. The hereditary pattern appears to be an autosomal dominant trait with incomplete penetrance and variable expressivity. The pediatric otolaryngologist should be alert to this syndrome and will be consulted for airway and feeding problems as well as speech and hearing management. Because of the wide variability of expression of popliteal pterygium syndrome, careful physical evaluation of available family members should be made in sporadic cases to confirm the diagnosis in those presenting with minor manifestations and to discover less severely affected relatives of those with full expression. Appropriate genetic counseling can then be given to these families.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Biological and medical sciences</subject><subject>Cleft Lip</subject><subject>Cleft Palate</subject><subject>Complex syndromes</subject><subject>Eyelids - abnormalities</subject><subject>Female</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Leg - abnormalities</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Nails, Malformed</subject><subject>Popliteal pterygiura syndrome</subject><subject>Syndrome</subject><issn>0165-5876</issn><issn>1872-8464</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1988</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kEtLxDAUhYMo4zj6D0aYhYguqknT5rERZPAFA7rQdcjjViJ9mbTC_Htbp8zSxeUuzncf5yC0JPiGYMJuh8qTXHB2JcS1xDhjiThAcyJ4moiMZYdovkeO0UmMXxgTjvN8hmaU8pRQOUfLt6YtfQe6XLUdhO2n76tV3NYuNBWcoqNClxHOpr5AH48P7-vnZPP69LK-3ySWCtYlkHKbU8akpTJnxObSUE0JsUBTzA0YXBjnjCzAEM2ygmGeOcvdoOVgHNAFutztbUPz3UPsVOWjhbLUNTR9VFykNEsJH8BsB9rQxBigUG3wlQ5bRbAaQ1GjYzU6VkKov1CUGMbOp_29qcDth6YUBv1i0nW0uiyCrq2Pe4xzKTkfr9_tMBiy-PEQVLQeagvOB7Cdco3__49fY8584w</recordid><startdate>19880201</startdate><enddate>19880201</enddate><creator>Deskin, Ronald W.</creator><creator>Drew G., Sawyer</creator><general>Elsevier Ireland Ltd</general><general>Elsevier</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>7X8</scope><scope>8BM</scope></search><sort><creationdate>19880201</creationdate><title>Popliteal pterygium syndrome</title><author>Deskin, Ronald W. ; Drew G., Sawyer</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c386t-e27c53669c39561c59b3a311ce3207beb0fbddb9feb1a64f6074dc7d07b5ebde3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1988</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Biological and medical sciences</topic><topic>Cleft Lip</topic><topic>Cleft Palate</topic><topic>Complex syndromes</topic><topic>Eyelids - abnormalities</topic><topic>Female</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Leg - abnormalities</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Nails, Malformed</topic><topic>Popliteal pterygiura syndrome</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Deskin, Ronald W.</creatorcontrib><creatorcontrib>Drew G., Sawyer</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>MEDLINE - Academic</collection><collection>ComDisDome</collection><jtitle>International journal of pediatric otorhinolaryngology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Deskin, Ronald W.</au><au>Drew G., Sawyer</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Popliteal pterygium syndrome</atitle><jtitle>International journal of pediatric otorhinolaryngology</jtitle><addtitle>Int J Pediatr Otorhinolaryngol</addtitle><date>1988-02-01</date><risdate>1988</risdate><volume>15</volume><issue>1</issue><spage>17</spage><epage>22</epage><pages>17-22</pages><issn>0165-5876</issn><eissn>1872-8464</eissn><coden>IPOTDJ</coden><abstract>A syndrome of popliteal pterygium, cleft lip-palate, lower lip pits, eyelid adhesions, genito-urinary anomalies and digital anomalies is presented as the Popliteal pterygium syndrome. The hereditary pattern appears to be an autosomal dominant trait with incomplete penetrance and variable expressivity. The pediatric otolaryngologist should be alert to this syndrome and will be consulted for airway and feeding problems as well as speech and hearing management. Because of the wide variability of expression of popliteal pterygium syndrome, careful physical evaluation of available family members should be made in sporadic cases to confirm the diagnosis in those presenting with minor manifestations and to discover less severely affected relatives of those with full expression. Appropriate genetic counseling can then be given to these families.</abstract><cop>Amsterdam</cop><pub>Elsevier Ireland Ltd</pub><pmid>3372139</pmid><doi>10.1016/0165-5876(88)90046-8</doi><tpages>6</tpages></addata></record> |
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| ispartof | International journal of pediatric otorhinolaryngology, 1988-02, Vol.15 (1), p.17-22 |
| issn | 0165-5876 1872-8464 |
| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Abnormalities, Multiple - genetics Biological and medical sciences Cleft Lip Cleft Palate Complex syndromes Eyelids - abnormalities Female Humans Infant, Newborn Leg - abnormalities Medical genetics Medical sciences Nails, Malformed Popliteal pterygiura syndrome Syndrome |
| title | Popliteal pterygium syndrome |
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