Atelosteogenesis Type 1

Common Name(s)

Atelosteogenesis Type 1

Atelosteogenesis is the name given by {6:Maroteaux et al. (1982)} to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. {8:Rimoin et al. (1980)} termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees ({3:Jeon et al., 2014}). Genetic Heterogeneity of Atelosteogenesis Atelosteogenesis type II (AO2; {256050}) is caused by mutation in the SLC26A2 gene ({606718}) on chromosome 5q32. AO3 ({108721}) is also caused by mutation in the FLNB gene ({603381}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Atelosteogenesis Type 1" for support, advocacy or research.

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General Support Organizations

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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 "Atelosteogenesis Type 1" returned 1 free, full-text research articles on human participants. First 3 results:

Prenatal sonographic features of fetal atelosteogenesis type 1.
 

Author(s): Suchaya Luewan, Kornkanok Sukpan, Piyarat Udomwan, Theera Tongsong

Journal: J Ultrasound Med. 2009 Aug;28(8):1091-5.

 

Last Updated: 31 Jul 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Atelosteogenesis Type 1" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.