Identical twins with Cohen syndrome
We report the first case of identical female twins who satisfy the proposed diagnostic criteria for Cohen syndrome. The sisters presented with retinal degeneration, obesity and mental retardation, and had the characteristic facial appearance. The manifestations of previously reported cases of Cohen...
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| Veröffentlicht in: | American journal of medical genetics 1995-07, Vol.58 (1), p.54-58 |
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| container_title | American journal of medical genetics |
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| creator | North, Kathryn N. Fulton, Anne B. Whiteman, David A. H. |
| description | We report the first case of identical female twins who satisfy the proposed diagnostic criteria for Cohen syndrome. The sisters presented with retinal degeneration, obesity and mental retardation, and had the characteristic facial appearance. The manifestations of previously reported cases of Cohen syndrome are reviewed. Unusual changes in our patients include tall stature, macrocephaly, and transient cardiomyopathy during the first year of life. These anomalies have been reported previously in other patients with Cohen syndrome, and suggest that the disorder is phenotypically heterogeneous. Precocious puberty was present in both girls; the latter findings have not been reported previously in the Cohen syndrome. Detailed metabolic and cytogenetic analysis demonstrated no abnormalities. © 1995 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.1320580112 |
| format | Article |
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H.</creator><creatorcontrib>North, Kathryn N. ; Fulton, Anne B. ; Whiteman, David A. H.</creatorcontrib><description>We report the first case of identical female twins who satisfy the proposed diagnostic criteria for Cohen syndrome. The sisters presented with retinal degeneration, obesity and mental retardation, and had the characteristic facial appearance. The manifestations of previously reported cases of Cohen syndrome are reviewed. Unusual changes in our patients include tall stature, macrocephaly, and transient cardiomyopathy during the first year of life. These anomalies have been reported previously in other patients with Cohen syndrome, and suggest that the disorder is phenotypically heterogeneous. Precocious puberty was present in both girls; the latter findings have not been reported previously in the Cohen syndrome. Detailed metabolic and cytogenetic analysis demonstrated no abnormalities. © 1995 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320580112</identifier><identifier>PMID: 7573157</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Biological and medical sciences ; cardiomyopathy ; Child ; Cohen syndrome ; Complex syndromes ; Diseases in Twins ; Face - abnormalities ; Female ; Humans ; Intellectual Disability - genetics ; macrocephaly ; Magnetic Resonance Imaging ; Medical genetics ; Medical sciences ; monozygotic twins ; Obesity - genetics ; precocious puberty ; retinal degeneration ; Retinal Degeneration - diagnosis ; Retinal Degeneration - genetics ; Syndrome ; Twins, Monozygotic</subject><ispartof>American journal of medical genetics, 1995-07, Vol.58 (1), p.54-58</ispartof><rights>Copyright © 1995 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1995 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4112-9cee02738b9a6773f171264ec73c4fec9df393ff552367d2f15ff133c2149cc03</citedby><cites>FETCH-LOGICAL-c4112-9cee02738b9a6773f171264ec73c4fec9df393ff552367d2f15ff133c2149cc03</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,27905,27906</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3615436$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7573157$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>North, Kathryn N.</creatorcontrib><creatorcontrib>Fulton, Anne B.</creatorcontrib><creatorcontrib>Whiteman, David A. H.</creatorcontrib><title>Identical twins with Cohen syndrome</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>We report the first case of identical female twins who satisfy the proposed diagnostic criteria for Cohen syndrome. The sisters presented with retinal degeneration, obesity and mental retardation, and had the characteristic facial appearance. The manifestations of previously reported cases of Cohen syndrome are reviewed. Unusual changes in our patients include tall stature, macrocephaly, and transient cardiomyopathy during the first year of life. These anomalies have been reported previously in other patients with Cohen syndrome, and suggest that the disorder is phenotypically heterogeneous. Precocious puberty was present in both girls; the latter findings have not been reported previously in the Cohen syndrome. Detailed metabolic and cytogenetic analysis demonstrated no abnormalities. © 1995 Wiley‐Liss, Inc.</description><subject>Biological and medical sciences</subject><subject>cardiomyopathy</subject><subject>Child</subject><subject>Cohen syndrome</subject><subject>Complex syndromes</subject><subject>Diseases in Twins</subject><subject>Face - abnormalities</subject><subject>Female</subject><subject>Humans</subject><subject>Intellectual Disability - genetics</subject><subject>macrocephaly</subject><subject>Magnetic Resonance Imaging</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>monozygotic twins</subject><subject>Obesity - genetics</subject><subject>precocious puberty</subject><subject>retinal degeneration</subject><subject>Retinal Degeneration - diagnosis</subject><subject>Retinal Degeneration - genetics</subject><subject>Syndrome</subject><subject>Twins, Monozygotic</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkM1LwzAYh4Moc07PnoSC4q0zH03S4mkUrZNtDlQELyFLE9fZj5l0zP33dnRMPHl6D-_z-70vDwDnCPYRhPhGLoqPPiIY0hAihA9AF8GI-SHD4SHoQhSEPsdRdAxOnFvABglC3AEdTjlBlHfB5TDVZZ0pmXv1Oiudt87quRdXc116blOmtir0KTgyMnf6bDd74PX-7iV-8EdPyTAejHwVNKf9SGkNMSfhLJKMc2IQR5gFWnGiAqNVlBoSEWMoxYTxFBtEjUGEKIyCSClIeuC67V3a6mulXS2KzCmd57LU1coJzhnFkPAGvGlBZSvnrDZiabNC2o1AUGy1iK0W8aulSVzsqlezQqd7fueh2V_t9tI1LoyVpcrcHiMM0YCwBrttsXWW681_V8XgcZz8ecJv05mr9fc-Le2nYJxwKt4miXim02kSj9_FhPwAu32JRA</recordid><startdate>19950731</startdate><enddate>19950731</enddate><creator>North, Kathryn N.</creator><creator>Fulton, Anne B.</creator><creator>Whiteman, David A. H.</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>19950731</creationdate><title>Identical twins with Cohen syndrome</title><author>North, Kathryn N. ; Fulton, Anne B. ; Whiteman, David A. H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4112-9cee02738b9a6773f171264ec73c4fec9df393ff552367d2f15ff133c2149cc03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Biological and medical sciences</topic><topic>cardiomyopathy</topic><topic>Child</topic><topic>Cohen syndrome</topic><topic>Complex syndromes</topic><topic>Diseases in Twins</topic><topic>Face - abnormalities</topic><topic>Female</topic><topic>Humans</topic><topic>Intellectual Disability - genetics</topic><topic>macrocephaly</topic><topic>Magnetic Resonance Imaging</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>monozygotic twins</topic><topic>Obesity - genetics</topic><topic>precocious puberty</topic><topic>retinal degeneration</topic><topic>Retinal Degeneration - diagnosis</topic><topic>Retinal Degeneration - genetics</topic><topic>Syndrome</topic><topic>Twins, Monozygotic</topic><toplevel>online_resources</toplevel><creatorcontrib>North, Kathryn N.</creatorcontrib><creatorcontrib>Fulton, Anne B.</creatorcontrib><creatorcontrib>Whiteman, David A. H.</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>North, Kathryn N.</au><au>Fulton, Anne B.</au><au>Whiteman, David A. H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identical twins with Cohen syndrome</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1995-07-31</date><risdate>1995</risdate><volume>58</volume><issue>1</issue><spage>54</spage><epage>58</epage><pages>54-58</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We report the first case of identical female twins who satisfy the proposed diagnostic criteria for Cohen syndrome. The sisters presented with retinal degeneration, obesity and mental retardation, and had the characteristic facial appearance. The manifestations of previously reported cases of Cohen syndrome are reviewed. Unusual changes in our patients include tall stature, macrocephaly, and transient cardiomyopathy during the first year of life. These anomalies have been reported previously in other patients with Cohen syndrome, and suggest that the disorder is phenotypically heterogeneous. Precocious puberty was present in both girls; the latter findings have not been reported previously in the Cohen syndrome. Detailed metabolic and cytogenetic analysis demonstrated no abnormalities. © 1995 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>7573157</pmid><doi>10.1002/ajmg.1320580112</doi><tpages>5</tpages></addata></record> |
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| ispartof | American journal of medical genetics, 1995-07, Vol.58 (1), p.54-58 |
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| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Biological and medical sciences cardiomyopathy Child Cohen syndrome Complex syndromes Diseases in Twins Face - abnormalities Female Humans Intellectual Disability - genetics macrocephaly Magnetic Resonance Imaging Medical genetics Medical sciences monozygotic twins Obesity - genetics precocious puberty retinal degeneration Retinal Degeneration - diagnosis Retinal Degeneration - genetics Syndrome Twins, Monozygotic |
| title | Identical twins with Cohen syndrome |
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