Literature DB >> 6507478

Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology.

C B Whitley, L O Langer, J Ophoven, E F Gilbert, C H Gonzalez, M Mammel, M Coleman, S Rosemberg, C J Rodriques, R Sibley.   

Abstract

Fibrochondrogenesis is a rare, neonatally lethal rhizomelic chondrodysplasia distinguished from other forms of lethal dwarfism by broad long-bone metaphyses, pear-shaped vertebral bodies, and by microscopic changes of cartilage with unique interwoven fibrous septa and fibroblastic dysplasia of chondrocytes. We report the second and third well-documented cases of this apparently autosomal recessive disorder and discuss the differential diagnosis.

Entities:  

Mesh：

Year:  1984        PMID： 6507478     DOI： 10.1002/ajmg.1320190209

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  8 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

2.  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

3.  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

4.  Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.

Authors:  Stuart W Tompson; Eissa Ali Faqeih; Leena Ala-Kokko; Jacqueline T Hecht; Rika Miki; Tara Funari; Vincent A Funari; Lisette Nevarez; Deborah Krakow; Daniel H Cohn
Journal:  Am J Med Genet A       Date:  2012-01-13       Impact factor: 2.802

5.  Metatropic dysplasia lethal variants.

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

6.  Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.

Authors:  T Furuichi; H Kayserili; S Hiraoka; G Nishimura; H Ohashi; Y Alanay; J C Lerena; A D Aslanger; H Koseki; D H Cohn; A Superti-Furga; S Unger; S Ikegawa
Journal:  J Med Genet       Date:  2009-06-08       Impact factor: 6.318

7.  Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.

Authors:  Thomas Nixon; Allan J Richards; Adrian Lomas; Stephen Abbs; Pradeep Vasudevan; Annie McNinch; Philip Alexander; Martin P Snead
Journal:  Mol Genet Genomic Med       Date:  2020-06-24       Impact factor: 2.183

Review 8.  Autosomal Recessive Stickler Syndrome.

Authors:  Thomas R W Nixon; Allan J Richards; Howard Martin; Philip Alexander; Martin P Snead
Journal:  Genes (Basel)       Date:  2022-06-24       Impact factor: 4.141
  8 in total

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