Literature DB >> 7824362

Sponastrime dysplasia: report on a male patient.

G Camera1, A Camera, S Pozzolo, P Costa.   

Abstract

We report on a boy in the fourth family known to be affected with sponastrime dysplasia. The clinical and radiological features are presented. In this patient, the ossification delay was severe. The pattern of inheritance of this condition is discussed.

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Mesh：

Year:  1994        PMID： 7824362     DOI： 10.1007/bf02012115

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  3 in total

1.  The SPONASTRIME dysplasia: familial short-limb dwarfism with saddle nose, spinal alterations and metaphyseal striation. Report of 4 siblings.

Authors:  S Fanconi; C Issler; A Giedion; A Prader
Journal:  Helv Paediatr Acta       Date:  1983-08

2.  Sponastrime dysplasia: report on two siblings with metal retardation.

Authors:  G Camera; A Camera; M Di Rocco; R Gatti
Journal:  Pediatr Radiol       Date:  1993

3.  Sponastrime dysplasia. A radiologic-pathologic correlation.

Authors:  R S Lachman; H Stoss; J Spranger
Journal:  Pediatr Radiol       Date:  1989
  3 in total
  2 in total

1.  A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations.

Authors:  C M Hall; N H Elçioglu; D G Shaw
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

2.  Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia: A Case Report.

Authors:  Je Hoon Jeong; A Leum Lee; Sung Yoon Cho; Dong Kyu Jin; Soo-Bin Im
Journal:  Medicine (Baltimore)       Date:  2016-05       Impact factor: 1.889
  2 in total

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