Literature DB >> 220926

[Complex bone abnormalities with fatal outcome: a new familial syndrome].

J Saint-Martin, J Péborde, H Dupont, A Béguère, A Labès.   

Abstract

A new lethal disorder affecting two brothers is described. The features were curvature of the long bones, multiple fractures, dysmorphic facies, syndactyly and absence of ossification in the cranial vault. The condition could be inherited as an autosomal recessive or sex linked condition.

Entities:  

Mesh:

Year:  1979        PMID: 220926

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN: 0003-9764


  1 in total

1.  Congenital bowing of the long bones. A review and phenotype analysis of 13 undiagnosed cases.

Authors:  B D Hall; J Spranger
Journal:  Eur J Pediatr       Date:  1980-03       Impact factor: 3.183

  1 in total

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