Literature DB >> 8781111

A new lethal skeletal dysplasia or the severe end of the atelosteogenesis spectrum?

A E Fryer1, H Carty.   

Abstract

The case of a 20-week fetus is reported with almost completely deficient ossification of the vertebral bodies and absent ossification of several long bones. This could be a unique skeletal dysplasia or the most severe end of the atelosteogenesis spectrum.

Entities:  

Mesh：

Year:  1996        PMID： 8781111     DOI： 10.1007/bf01356834

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


  5 in total

1.  A case of atelosteogenesis.

Authors:  K Temple; C A Hall; L Chitty; M Baraitser
Journal:  J Med Genet       Date:  1990-03       Impact factor: 6.318

2.  Variant of atelosteogenesis? Report of a 20-week fetus.

Authors:  A J Herzberg; E L Effmann; W D Bradford
Journal:  Am J Med Genet       Date:  1988-04

3.  Boomerang dysplasia.

Authors:  K Kozlowski; D Sillence; R Cortis-Jones; R Osborn
Journal:  Br J Radiol       Date:  1985-04       Impact factor: 3.039

4.  Atelosteogenesis.

Authors:  P Maroteaux; J Spranger; V Stanescu; B Le Marec; R A Pfeiffer; P Beighton; J F Mattei
Journal:  Am J Med Genet       Date:  1982-09

Review 5.  Atelosteogenesis I and boomerang dysplasia: a question of nosology.

Authors:  A G Hunter; B F Carpenter
Journal:  Clin Genet       Date:  1991-06       Impact factor: 4.438
  5 in total

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