Literature DB >> 9508239

Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype.

J Zizka1, J Charvat, A Baxova, P Balicek, K Kozlowski.   

Abstract

We present two sibs with a distinctive phenotype and with stippled calcifications of the tarsal bones and sacro-coccygeal spine. They represent an apparently "new" form of chondrodysplasia punctata.

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Year:  1998        PMID: 9508239     DOI: 10.1002/(sici)1096-8628(19980319)76:3<213::aid-ajmg3>3.0.co;2-r

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


  1 in total

1.  Brachytelephalangic chondrodysplasia punctata: A difficult diagnosis.

Authors:  Andrea Sanfilippo; Stefano Bartoletti
Journal:  Radiol Case Rep       Date:  2015-11-06
  1 in total

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