Literature DB >> 7137222

An autosomal dominant syndrome of radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema.

E Schmitt, J Y Gillenwater, T E Kelly.   

Abstract

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.

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Year:  1982        PMID: 7137222     DOI: 10.1002/ajmg.1320130111

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

Review 1.  Triphalangeal thumb.

Authors:  Q Qazi; E G Kassner
Journal:  J Med Genet       Date:  1988-08       Impact factor: 6.318

  1 in total

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