Literature DB >> 7096116

[A new form of familial metaphyseal dysplasia. Preliminary report].

B Höhle, H S Braun.   

Abstract

A new hereditary form of metaphyseal dysplasia is described. A clear distinction from other forms of metaphyseal dysplasias is evident by the lack of hyperostosis of the skull, an autosomal dominant inheritance, Erlenmeyer flask deformity of the distal femoral metaphyses, and characteristic deformations of the radius. The observation is discussed, and reference is given to an identical observation published earlier.

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Year:  1982        PMID: 7096116

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN: 0018-022X


  1 in total

Review 1.  The Erlenmeyer flask bone deformity in the skeletal dysplasias.

Authors:  Maha A Faden; Deborah Krakow; Fatih Ezgu; David L Rimoin; Ralph S Lachman
Journal:  Am J Med Genet A       Date:  2009-06       Impact factor: 2.802

  1 in total

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