Literature DB >> 6405037

Spondyloepiphyseal dysplasia.

J Vanĕk.   

Abstract

Skeletal dysplasia with autosomal dominant inheritance was found in four members of one family and in one sporadic case. The syndrome comprises brachydactyly E, platyspondyly, abnormality of the sacroiliac joint, disturbance of metaphyseal modelling, epiphyseal dysplasia, and short stature. This study deals with a particular type of spondyloepiphyseal dysplasia and compares it with similar cases in two previously published papers.

Entities:  

Mesh：

Year:  1983        PMID： 6405037      PMCID： PMC1049012     

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  2 in total

1.  An unusual familial spondyloepiphyseal dysplasia: "spondyloperipheral dysplasia".

Authors:  T E Kelly; J R Lichtenstein; J P Dorst
Journal:  Birth Defects Orig Artic Ser       Date:  1977

2.  Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia.

Authors:  V P Sybert; P H Byers; J G Hall
Journal:  Clin Genet       Date:  1979-02       Impact factor: 4.438
  2 in total
  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.  Handigodu disease: a radiological study. A new variety of spondyloepi(meta)physeal dysplasia of the autosomal dominant type.

Authors:  S S Agarwal; S R Phadke; R V Phadke; S K Das; G K Singh; J P Sharma; S P Teotia; B N Saxena
Journal:  Skeletal Radiol       Date:  1994-11       Impact factor: 2.199
  2 in total

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