Literature DB >> 749746

[Fibrochondrogenesis].

F Lazzaroni-Fossati, V Stanescu, R Stanescu, G Serra, P Magliano, P Maroteaux.   

Abstract

Fibrochondrogenesis is a lethal form of dwarfism similar to thanatophoric dwarfism. It is distinguished radiologically by the widening of the metaphyses of the long bones, and, on lateral x-ray of the spine, by a median fissure of the body of the vertebra without any loss of vertebral height. The condition is inherited an autosomal recessive. A study of growing cartilage confirms that this disease is a distinct entity as there is fibrosis of the cartilage which is never present in thanatophoric dwarfism or in the different forms of achondrogenesis.

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Year:  1978        PMID: 749746

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


  6 in total

1.  Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

Authors:  Stuart W Tompson; Carlos A Bacino; Nicole P Safina; Michael B Bober; Virginia K Proud; Tara Funari; Michael F Wangler; Lisette Nevarez; Leena Ala-Kokko; William R Wilcox; David R Eyre; Deborah Krakow; Daniel H Cohn
Journal:  Am J Hum Genet       Date:  2010-10-28       Impact factor: 11.025

Review 2.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

3.  A new case of fibrochondrogenesis from Spain.

Authors:  M L Martínez-Frías; A García; J Cuevas; J I Rodríguez; M Urioste
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

4.  Fibrochondrogenesis.

Authors:  M L Kulkarni; Prakash S Matadh; S P Praveen Prabhu; Preeti M Kulkarni
Journal:  Indian J Pediatr       Date:  2005-04       Impact factor: 1.967

5.  Kniest disease with Pierre Robin syndrome and hydrocephalus.

Authors:  M Cirillo Silengo; G F Davi; R Bianco; A DeMarco; P Franceschini
Journal:  Pediatr Radiol       Date:  1983

6.  Metatropic dysplasia lethal variants.

Authors:  Christine M Hall; Nursel H Elçioglu
Journal:  Pediatr Radiol       Date:  2003-10-18
  6 in total

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