An autosomal dominant syndrome of radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema
We describe a family in which eight persons (three males, five females) in three generations had a syndrome of bilateral and strikingly symmetrical triphalangeal thumbs and radial hypoplasia. The affected males also had a first‐degree hypospadias and all affected family members had an anterior maxil...
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| Veröffentlicht in: | American journal of medical genetics 1982-09, Vol.13 (1), p.63-69 |
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| container_end_page | 69 |
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| container_title | American journal of medical genetics |
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| creator | Schmitt, Edward Gillenwater, Jay Y. Kelly, Thaddeus E. Opitz, John M. |
| description | We describe a family in which eight persons (three males, five females) in three generations had a syndrome of bilateral and strikingly symmetrical triphalangeal thumbs and radial hypoplasia. The affected males also had a first‐degree hypospadias and all affected family members had an anterior maxillary diastema. The syndrome was inherited in an autosomal dominant fashion. |
| doi_str_mv | 10.1002/ajmg.1320130111 |
| format | Article |
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The affected males also had a first‐degree hypospadias and all affected family members had an anterior maxillary diastema. The syndrome was inherited in an autosomal dominant fashion.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320130111</identifier><identifier>PMID: 7137222</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - genetics ; Adult ; autosomal dominant trait ; Child ; Child, Preschool ; Female ; Genes, Dominant ; Humans ; hypospadias ; Hypospadias - genetics ; Male ; Maxilla - abnormalities ; maxillary diastema ; Pedigree ; radial hypoplasia ; Radius - abnormalities ; Thumb - abnormalities ; triphalangeal thumbs</subject><ispartof>American journal of medical genetics, 1982-09, Vol.13 (1), p.63-69</ispartof><rights>Copyright © 1982 Wiley‐Liss, Inc., A Wiley Company</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4791-7900d4862fb1c049ea8d4fe7a33933a5f43e54bcc7ed25a16e8447f9d39306183</citedby><cites>FETCH-LOGICAL-c4791-7900d4862fb1c049ea8d4fe7a33933a5f43e54bcc7ed25a16e8447f9d39306183</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7137222$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Schmitt, Edward</creatorcontrib><creatorcontrib>Gillenwater, Jay Y.</creatorcontrib><creatorcontrib>Kelly, Thaddeus E.</creatorcontrib><creatorcontrib>Opitz, John M.</creatorcontrib><title>An autosomal dominant syndrome of radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema</title><title>American journal of medical genetics</title><addtitle>Am. 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| identifier | ISSN: 0148-7299 |
| ispartof | American journal of medical genetics, 1982-09, Vol.13 (1), p.63-69 |
| issn | 0148-7299 1096-8628 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_74306119 |
| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Abnormalities, Multiple - genetics Adult autosomal dominant trait Child Child, Preschool Female Genes, Dominant Humans hypospadias Hypospadias - genetics Male Maxilla - abnormalities maxillary diastema Pedigree radial hypoplasia Radius - abnormalities Thumb - abnormalities triphalangeal thumbs |
| title | An autosomal dominant syndrome of radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema |
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