Literature DB >> 9643294

A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta: an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorder.

N Elçioglu1, C M Hall.   

Abstract

An unusual osteochondrodysplasia presenting with lethal neonatal short limbed dwarfism, defective ossification, and punctate calcification within cartilage is presented. The features resemble four cases previously described with Astley-Kendall dysplasia.

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Year:  1998        PMID： 9643294      PMCID： PMC1051347          DOI： 10.1136/jmg.35.6.505

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


  6 in total

Review 1.  The lethal osteochondrodysplasias.

Authors:  J Spranger; P Maroteaux
Journal:  Adv Hum Genet       Date:  1990

2.  Dappled diaphyseal dysplasias.

Authors:  H Carty; K Kozlowski; D Sillence
Journal:  Rofo       Date:  1989-02

3.  A new autosomal recessive lethal chondrodystrophy with congenital hydrops.

Authors:  C R Greenberg; D L Rimoin; H E Gruber; D J DeSa; M Reed; R S Lachman
Journal:  Am J Med Genet       Date:  1988-03

Review 4.  Punctate epiphyses: a radiological sign not a disease.

Authors:  A K Poznanski
Journal:  Pediatr Radiol       Date:  1994

5.  A bone dysplasia for diagnosis.

Authors:  R Astley; A C Kendall
Journal:  Ann Radiol (Paris)       Date:  1980-02

6.  A new type of lethal short-limbed dwarfism.

Authors:  E R Nairn; S Chapman
Journal:  Pediatr Radiol       Date:  1989
  6 in total
  1 in total

Review 1.  A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.

Authors:  Pernille A Gregersen; Victoria McKay; Maie Walsh; Erica Brown; George McGillivray; Ravi Savarirayan
Journal:  Mol Genet Genomic Med       Date:  2020-04-18       Impact factor: 2.183
  1 in total

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