Literature DB >> 3425631

Unique skeletal dysplasia with absence of the distal ulnae.

J Goldblatt1, D Behari.   

Abstract

We report on an Indian woman with a severe shortness of stature, absence of the distal ulnae, and a predominantly spondylometaphyseal skeletal dysplasia. The clinicoradiographic changes in this patient appear to represent a unique skeletal disorder.

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Year:  1987        PMID： 3425631     DOI： 10.1002/ajmg.1320280310

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


  2 in total

Review 1.  Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.

Authors:  M P Snead; A M McNinch; A V Poulson; P Bearcroft; B Silverman; P Gomersall; V Parfect; A J Richards
Journal:  Eye (Lond)       Date:  2011-09-16       Impact factor: 3.775

2.  Mesomelic dysplasia of the upper extremities associated with other abnormalities: a new syndrome?

Authors:  K Kozlowski; L Bacha; L Brachimi; R Massen
Journal:  Pediatr Radiol       Date:  1993
  2 in total

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