New syndrome: Mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies
We report on a mother and son with a similar syndrome of hypertelorism and telecanthus, epicanthal folds, downslanting palpebral fissures, ptosis, broad nasal bridge, malar hypoplasia, thin upper lip, smooth philtrum, and apparently low‐set prominent ears. The son also has a hypoplastic shawl scrotu...
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| Veröffentlicht in: | American journal of medical genetics 1991-12, Vol.41 (4), p.405-409 |
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| container_title | American journal of medical genetics |
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| creator | Seaver, Laurie H. Cassidy, Suzanne B. |
| description | We report on a mother and son with a similar syndrome of hypertelorism and telecanthus, epicanthal folds, downslanting palpebral fissures, ptosis, broad nasal bridge, malar hypoplasia, thin upper lip, smooth philtrum, and apparently low‐set prominent ears. The son also has a hypoplastic shawl scrotum, cryptorchidism, and genu valgum. His language development was delayed at 18 months, but subsequently improved and was normal at age 3. The mother has the additional findings of marked cubitus valgus, hyperextensible joints, dull normal intelligence and a bleeding diathesis. This pattern of multiple congenital anomalies may represent a new syndrome. |
| doi_str_mv | 10.1002/ajmg.1320410404 |
| format | Article |
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The son also has a hypoplastic shawl scrotum, cryptorchidism, and genu valgum. His language development was delayed at 18 months, but subsequently improved and was normal at age 3. The mother has the additional findings of marked cubitus valgus, hyperextensible joints, dull normal intelligence and a bleeding diathesis. This pattern of multiple congenital anomalies may represent a new syndrome.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320410404</identifier><identifier>PMID: 1776627</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Aarskog syndrome ; Abnormalities, Multiple - genetics ; Adult ; Biological and medical sciences ; CFC syndrome ; Child, Preschool ; craniofacial anomalies ; craniofacial syndromes ; cubitus valgus ; Facial Bones - abnormalities ; Female ; Humans ; hypertelorism ; Hypertelorism - genetics ; Joints - abnormalities ; Male ; Medical genetics ; Medical sciences ; multiple congenital anomalies ; new syndrome ; Noonan syndrome ; Noonan Syndrome - genetics ; Phenotype ; Scrotum - abnormalities ; shawl scrotum ; Skull - abnormalities ; Syndrome</subject><ispartof>American journal of medical genetics, 1991-12, Vol.41 (4), p.405-409</ispartof><rights>Copyright © 1991 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1992 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4424-ead597f593bd06e0160d5c01cd8a6810553731d0397a7827c0c2aea03769060a3</citedby><cites>FETCH-LOGICAL-c4424-ead597f593bd06e0160d5c01cd8a6810553731d0397a7827c0c2aea03769060a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>309,310,314,780,784,789,790,23930,23931,25140,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=5158503$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1776627$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Seaver, Laurie H.</creatorcontrib><creatorcontrib>Cassidy, Suzanne B.</creatorcontrib><title>New syndrome: Mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>We report on a mother and son with a similar syndrome of hypertelorism and telecanthus, epicanthal folds, downslanting palpebral fissures, ptosis, broad nasal bridge, malar hypoplasia, thin upper lip, smooth philtrum, and apparently low‐set prominent ears. The son also has a hypoplastic shawl scrotum, cryptorchidism, and genu valgum. His language development was delayed at 18 months, but subsequently improved and was normal at age 3. The mother has the additional findings of marked cubitus valgus, hyperextensible joints, dull normal intelligence and a bleeding diathesis. This pattern of multiple congenital anomalies may represent a new syndrome.</description><subject>Aarskog syndrome</subject><subject>Abnormalities, Multiple - genetics</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>CFC syndrome</subject><subject>Child, Preschool</subject><subject>craniofacial anomalies</subject><subject>craniofacial syndromes</subject><subject>cubitus valgus</subject><subject>Facial Bones - abnormalities</subject><subject>Female</subject><subject>Humans</subject><subject>hypertelorism</subject><subject>Hypertelorism - genetics</subject><subject>Joints - abnormalities</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>multiple congenital anomalies</subject><subject>new syndrome</subject><subject>Noonan syndrome</subject><subject>Noonan Syndrome - genetics</subject><subject>Phenotype</subject><subject>Scrotum - abnormalities</subject><subject>shawl scrotum</subject><subject>Skull - abnormalities</subject><subject>Syndrome</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1991</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU9v00AQxS0EKmnhzAlpD4hT3M76z64Np6qUAEpLD6BKXFYTe9JsWHvNjqOQz8SXxMFRK049rbTze-_N6EXRKwmnEiA5w3VzdyrTBDIJGWRPoomEUsWFSoqn0QRkVsQ6Kcvn0THzGkAOH8lRdCS1VirRk-jPNW0F79o6-IbeiSvfrygIbGvBvhVb26_EatdR6Mn5YLmZitpvW3bY9ra9Ex26jhYBnVha5k0gnooGHYa9yncO2eL0nx12HQZqe7cTzm9jpl4QBhbI7CuLPdVj2trbth8XqILvB2ds_WBpiV9Ez5bomF4e3pPo-8fLbxef4vnX2eeL83lcZVmSxYR1XuplXqaLGhSBVFDnFciqLlAVEvI81amsIS016iLRFVQJEkKqVQkKMD2J3o6-XfC_NsS9aSxX5IajyW_Y6EQlJej0UXBILjKdwwCejeBwEnOgpemCbTDsjASz79HsezQPPQ6K1wfrzaKh-oEfixvmbw5z5ArdMmBbWb7HcpkXQ-6AvR-xrXW0eyzVnH-5mv23RDyqLff0-16N4adROtW5ub2emfzmw_xG_lDmNv0LSPzJZg</recordid><startdate>19911215</startdate><enddate>19911215</enddate><creator>Seaver, Laurie H.</creator><creator>Cassidy, Suzanne B.</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>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope></search><sort><creationdate>19911215</creationdate><title>New syndrome: Mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies</title><author>Seaver, Laurie H. ; Cassidy, Suzanne B.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4424-ead597f593bd06e0160d5c01cd8a6810553731d0397a7827c0c2aea03769060a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1991</creationdate><topic>Aarskog syndrome</topic><topic>Abnormalities, Multiple - genetics</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>CFC syndrome</topic><topic>Child, Preschool</topic><topic>craniofacial anomalies</topic><topic>craniofacial syndromes</topic><topic>cubitus valgus</topic><topic>Facial Bones - abnormalities</topic><topic>Female</topic><topic>Humans</topic><topic>hypertelorism</topic><topic>Hypertelorism - genetics</topic><topic>Joints - abnormalities</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>multiple congenital anomalies</topic><topic>new syndrome</topic><topic>Noonan syndrome</topic><topic>Noonan Syndrome - genetics</topic><topic>Phenotype</topic><topic>Scrotum - abnormalities</topic><topic>shawl scrotum</topic><topic>Skull - abnormalities</topic><topic>Syndrome</topic><toplevel>online_resources</toplevel><creatorcontrib>Seaver, Laurie H.</creatorcontrib><creatorcontrib>Cassidy, Suzanne B.</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>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering 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>Seaver, Laurie H.</au><au>Cassidy, Suzanne B.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>New syndrome: Mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1991-12-15</date><risdate>1991</risdate><volume>41</volume><issue>4</issue><spage>405</spage><epage>409</epage><pages>405-409</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We report on a mother and son with a similar syndrome of hypertelorism and telecanthus, epicanthal folds, downslanting palpebral fissures, ptosis, broad nasal bridge, malar hypoplasia, thin upper lip, smooth philtrum, and apparently low‐set prominent ears. The son also has a hypoplastic shawl scrotum, cryptorchidism, and genu valgum. His language development was delayed at 18 months, but subsequently improved and was normal at age 3. The mother has the additional findings of marked cubitus valgus, hyperextensible joints, dull normal intelligence and a bleeding diathesis. This pattern of multiple congenital anomalies may represent a new syndrome.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>1776627</pmid><doi>10.1002/ajmg.1320410404</doi><tpages>5</tpages></addata></record> |
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| identifier | ISSN: 0148-7299 |
| ispartof | American journal of medical genetics, 1991-12, Vol.41 (4), p.405-409 |
| issn | 0148-7299 1096-8628 |
| language | eng |
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| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Aarskog syndrome Abnormalities, Multiple - genetics Adult Biological and medical sciences CFC syndrome Child, Preschool craniofacial anomalies craniofacial syndromes cubitus valgus Facial Bones - abnormalities Female Humans hypertelorism Hypertelorism - genetics Joints - abnormalities Male Medical genetics Medical sciences multiple congenital anomalies new syndrome Noonan syndrome Noonan Syndrome - genetics Phenotype Scrotum - abnormalities shawl scrotum Skull - abnormalities Syndrome |
| title | New syndrome: Mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies |
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