Update on a family with hand-foot-genital syndrome: Hypospadias and urinary tract abnormalities in two boys from the fourth generation
We describe a fourth generation of involvement with hand–foot–genital syndrome. The first 3 generations of this family, which included 5 affected females and no affected males, were reported previously by Verp et al. [1983]. In the fourth generation, 2 affected males are identified. To our knowledge...
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| Veröffentlicht in: | American journal of medical genetics 1992-11, Vol.44 (4), p.482-484 |
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| container_end_page | 484 |
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| container_title | American journal of medical genetics |
| container_volume | 44 |
| creator | Donnenfeld, Alan E. Schrager, Deborah S. Corson, Stephen L. |
| description | We describe a fourth generation of involvement with hand–foot–genital syndrome. The first 3 generations of this family, which included 5 affected females and no affected males, were reported previously by Verp et al. [1983]. In the fourth generation, 2 affected males are identified. To our knowledge, the findings of bilateral vesicoureteral reflux in one boy and bilateral ureteropelvic junction obstruction in his cousin represent the first reports of urinary tract abnormalities in males with this syndrome. |
| doi_str_mv | 10.1002/ajmg.1320440419 |
| format | Article |
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The first 3 generations of this family, which included 5 affected females and no affected males, were reported previously by Verp et al. [1983]. In the fourth generation, 2 affected males are identified. To our knowledge, the findings of bilateral vesicoureteral reflux in one boy and bilateral ureteropelvic junction obstruction in his cousin represent the first reports of urinary tract abnormalities in males with this syndrome.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320440419</identifier><identifier>PMID: 1442892</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adult ; Biological and medical sciences ; case reports ; Child, Preschool ; Complex syndromes ; Female ; Foot Deformities, Congenital - genetics ; Hand Deformities, Congenital - genetics ; hand-foot-genital syndrome ; Humans ; hypospadias ; Hypospadias - genetics ; Infant, Newborn ; Male ; man ; Medical genetics ; Medical sciences ; Müllerian anomaly ; Pedigree ; Pregnancy ; Pregnancy Complications ; Syndrome ; urinary tract ; Urinary Tract - abnormalities</subject><ispartof>American journal of medical genetics, 1992-11, Vol.44 (4), p.482-484</ispartof><rights>Copyright © 1992 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1993 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3579-aa62cc6fb004e7e5fe3f28b8ebb300258cdc0d2346274c0520d6b02fb32aedbd3</citedby><cites>FETCH-LOGICAL-c3579-aa62cc6fb004e7e5fe3f28b8ebb300258cdc0d2346274c0520d6b02fb32aedbd3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4409597$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1442892$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Donnenfeld, Alan E.</creatorcontrib><creatorcontrib>Schrager, Deborah S.</creatorcontrib><creatorcontrib>Corson, Stephen L.</creatorcontrib><title>Update on a family with hand-foot-genital syndrome: Hypospadias and urinary tract abnormalities in two boys from the fourth generation</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>We describe a fourth generation of involvement with hand–foot–genital syndrome. The first 3 generations of this family, which included 5 affected females and no affected males, were reported previously by Verp et al. [1983]. In the fourth generation, 2 affected males are identified. To our knowledge, the findings of bilateral vesicoureteral reflux in one boy and bilateral ureteropelvic junction obstruction in his cousin represent the first reports of urinary tract abnormalities in males with this syndrome.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>case reports</subject><subject>Child, Preschool</subject><subject>Complex syndromes</subject><subject>Female</subject><subject>Foot Deformities, Congenital - genetics</subject><subject>Hand Deformities, Congenital - genetics</subject><subject>hand-foot-genital syndrome</subject><subject>Humans</subject><subject>hypospadias</subject><subject>Hypospadias - genetics</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>man</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Müllerian anomaly</subject><subject>Pedigree</subject><subject>Pregnancy</subject><subject>Pregnancy Complications</subject><subject>Syndrome</subject><subject>urinary tract</subject><subject>Urinary Tract - abnormalities</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkUtv1TAQhSMEKpfCmhWSF4hdWj_yhFVVQQq6BRZUsLPGr16XJE5tR5f8AX43rnLVilW9GcnznTOjOVn2muATgjE9hZvh-oQwiosCF6R9km0Ibqu8qWjzNNtgUjR5Tdv2efYihBuMSfqgR9kRKQratHST_b2aFESN3IgAGRhsv6C9jTu0g1HlxrmYX-vRRuhRWEbl3aDfo4tlcmECZSGghKHZ2xH8gqIHGRGI0fkBehutDsiOKO4dEm4JyCQ5ijuNjJt9mpGctYdo3fgye2agD_rVoR5nV58-_ji_yLffus_nZ9tcsrJuc4CKSlkZgXGha10azQxtRKOFYOkaZSOVxIqyoqJ1IXFJsaoEpkYwCloJxY6zd6vv5N3trEPkgw1S9z2M2s2B1yy9luBHQVIxSjFpEni6gtK7ELw2fPJ2SNfgBPO7iPhdRPwhoqR4c7CexaDVA79mkvpvD30IEnrjYZQ23GPJpS3bOmEfVmxve708NpWffbns_lsiX9U2RP3nXg3-N69qVpf859eOd91l96v73vEt-wdbXbza</recordid><startdate>19921101</startdate><enddate>19921101</enddate><creator>Donnenfeld, Alan E.</creator><creator>Schrager, Deborah S.</creator><creator>Corson, Stephen L.</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>19921101</creationdate><title>Update on a family with hand-foot-genital syndrome: Hypospadias and urinary tract abnormalities in two boys from the fourth generation</title><author>Donnenfeld, Alan E. ; Schrager, Deborah S. ; Corson, Stephen L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3579-aa62cc6fb004e7e5fe3f28b8ebb300258cdc0d2346274c0520d6b02fb32aedbd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>case reports</topic><topic>Child, Preschool</topic><topic>Complex syndromes</topic><topic>Female</topic><topic>Foot Deformities, Congenital - genetics</topic><topic>Hand Deformities, Congenital - genetics</topic><topic>hand-foot-genital syndrome</topic><topic>Humans</topic><topic>hypospadias</topic><topic>Hypospadias - genetics</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>man</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Müllerian anomaly</topic><topic>Pedigree</topic><topic>Pregnancy</topic><topic>Pregnancy Complications</topic><topic>Syndrome</topic><topic>urinary tract</topic><topic>Urinary Tract - abnormalities</topic><toplevel>online_resources</toplevel><creatorcontrib>Donnenfeld, Alan E.</creatorcontrib><creatorcontrib>Schrager, Deborah S.</creatorcontrib><creatorcontrib>Corson, Stephen L.</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>Donnenfeld, Alan E.</au><au>Schrager, Deborah S.</au><au>Corson, Stephen L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Update on a family with hand-foot-genital syndrome: Hypospadias and urinary tract abnormalities in two boys from the fourth generation</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1992-11-01</date><risdate>1992</risdate><volume>44</volume><issue>4</issue><spage>482</spage><epage>484</epage><pages>482-484</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We describe a fourth generation of involvement with hand–foot–genital syndrome. The first 3 generations of this family, which included 5 affected females and no affected males, were reported previously by Verp et al. [1983]. In the fourth generation, 2 affected males are identified. To our knowledge, the findings of bilateral vesicoureteral reflux in one boy and bilateral ureteropelvic junction obstruction in his cousin represent the first reports of urinary tract abnormalities in males with this syndrome.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>1442892</pmid><doi>10.1002/ajmg.1320440419</doi><tpages>3</tpages></addata></record> |
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| language | eng |
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| subjects | Adult Biological and medical sciences case reports Child, Preschool Complex syndromes Female Foot Deformities, Congenital - genetics Hand Deformities, Congenital - genetics hand-foot-genital syndrome Humans hypospadias Hypospadias - genetics Infant, Newborn Male man Medical genetics Medical sciences Müllerian anomaly Pedigree Pregnancy Pregnancy Complications Syndrome urinary tract Urinary Tract - abnormalities |
| title | Update on a family with hand-foot-genital syndrome: Hypospadias and urinary tract abnormalities in two boys from the fourth generation |
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