Fibrochondrogenesis

Common Name(s)

Fibrochondrogenesis

Fibrochondrogenesis is a severe, autosomal recessive, short-limbed skeletal dysplasia clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Radiographically, the long bones are short and have broad metaphyseal ends, giving them a dumb-bell shape. The vertebral bodies are flat and, on lateral view, have a distinctive pinched appearance, with a hypoplastic posterior end and a rounded anterior end. The ribs are typically short and wide and have metaphyseal cupping at both ends (summary by {9:Tompson et al., 2010}). Genetic Heterogeneity of Fibrochondrogenesis Fibrochondrogenesis-2 (FBCG2; {614524}) is caused by mutation in the COL11A2 gene ({120290}) on chromosome 6p21.3.
 

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Condition Specific Organizations

Following organizations serve the condition "Fibrochondrogenesis" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fibrochondrogenesis" returned 6 free, full-text research articles on human participants. First 3 results:

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

Author(s): 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. 2012 Feb;158A(2):309-14.

 

Fibrochondrogenesis is a severe, recessively inherited skeletal dysplasia shown to result from mutations in the gene encoding the pro╬▒1(XI) chain of type XI collagen, COL11A1. The first of two cases reported here was the affected offspring of first cousins and sequence analysis excluded ...

Last Updated: 23 Jan 2012

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

Author(s): 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.. 2010 Nov;87(5):708-12.

 

Fibrochondrogenesis is a severe, autosomal-recessive, short-limbed skeletal dysplasia. In a single case of fibrochondrogenesis, whole-genome SNP genotyping identified unknown ancestral consanguinity by detecting three autozygous regions. Because of the predominantly skeletal nature ...

Last Updated: 12 Nov 2010

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The influence of an aligned nanofibrous topography on human mesenchymal stem cell fibrochondrogenesis.
 

Author(s): Brendon M Baker, Ashwin S Nathan, Albert O Gee, Robert L Mauck

Journal: Biomaterials. 2010 Aug;31(24):6190-200.

 

Fibrocartilaginous tissues serve critical load-bearing functions in numerous joints throughout the body. As these structures are often injured, there exists great demand for engineered tissue for repair or replacement. This study assessed the ability of human marrow-derived mesenchymal ...

Last Updated: 11 Jun 2010

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Reviews from the PubMed Database

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The terms "Fibrochondrogenesis" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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