Literature DB >> 8588578

Achondrogenesis type II with polydactyly.

M Rittler1, I M Orioli.   

Abstract

We report on a newborn male infant who presented the typical findings of achondrogenesis type II (Langer-Saldino), and who also showed postaxial polydactyly on both feet and bilateral microtia. Polydactyly is frequently part of the short-rib syndromes, but has not been reported in achondrogenesis. The hypothesis of polydactyly as part of a contiguous gene syndrome is discussed.

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Year:  1995        PMID: 8588578     DOI: 10.1002/ajmg.1320590208

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


  1 in total

1.  Visceral manifestations of hypochondrogenesis.

Authors:  Helen Wainwright; Peter Beighton
Journal:  Virchows Arch       Date:  2008-07-19       Impact factor: 4.064

  1 in total

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