Pyle disease

Common Name(s)

Pyle disease, Metaphyseal dysplasia

Pyle disease is a bone disorder characterized by genu valgum (knock knees), Erlenmeyer flask deformity (where there is relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone), widening of the ribs and clavicles (collarbones), platyspondyly (flattening of the bones of the spine) and cortical thinning. Only about 30 cases have been reported in the literature. Cranial involvement is minimal with some showing mild hyperostosis (excessive new bone formation ) of the skull base and thickening of the frontal and occipital bones. Pyle disease is passed through families in an autosomal recessive manner.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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

Pyle disease (metaphyseal dysplasia).
 

Author(s): P Beighton

Journal: J. Med. Genet.. 1987 Jun;24(6):321-4.

 

Last Updated: 28 Aug 1987

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Reviews from the PubMed Database

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The terms "Pyle disease" 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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