Literature DB >> 3213464

Spondyloepiphyseal dysplasia tarda. Report of a family with autosomal dominant transmission.

K Schantz1, P E Andersen, P Justesen.   

Abstract

We present a clinical and radiographic study of a family with the autosomal dominant form of spondyloepiphyseal dysplasia tarda, in some patients associated with hearing deficiency. Although no causal treatment is possible, correct diagnosis is important to avoid unnecessary treatment and for information about prognosis, genetic counseling, and recommendation of future occupation.

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Year:  1988        PMID: 3213464     DOI: 10.3109/17453678809149433

Source DB:  PubMed          Journal:  Acta Orthop Scand        ISSN: 0001-6470


  4 in total

1.  Poul Erik Andersen's radiological work on Osteochondrodysplasias and interventional radiology.

Authors:  Poul Erik Andersen
Journal:  World J Radiol       Date:  2011-08-28

2.  A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.

Authors:  G E Tiller; V L Hannig; D Dozier; L Carrel; K C Trevarthen; W R Wilcox; S Mundlos; J L Haines; A K Gedeon; J Gecz
Journal:  Am J Hum Genet       Date:  2001-04-26       Impact factor: 11.025

3.  The fate of the hip in spondylo-epi-metaphyseal dysplasia: clinical and radiological evaluation of adults with SEMD Handigodu type.

Authors:  N D Siddesh; Hitesh Shah; Benjamin Joseph
Journal:  Skeletal Radiol       Date:  2011-11-25       Impact factor: 2.199

4.  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

  4 in total

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