Dysosteosclerosis

Common Name(s)

Dysosteosclerosis

Dysosteosclerosis is a rare bone dysplasia associated with neurodevelopmental deterioration. There is sclerosis and platyspondyly with progressive metaphyseal expansion and alteration of bone density. The early craniotubular bone modeling and clinical presentation resemble osteopetrosis (summary by {1:Elcioglu et al., 2002}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dysosteosclerosis" 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 "Dysosteosclerosis" returned 2 free, full-text research articles on human participants. First 3 results:

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
 

Author(s): Philippe M Campeau, James T Lu, Gautam Sule, Ming-Ming Jiang, Yangjin Bae, Simran Madan, Wolfgang Högler, Nicholas J Shaw, Steven Mumm, Richard A Gibbs, Michael P Whyte, Brendan H Lee

Journal: Hum. Mol. Genet.. 2012 Nov;21(22):4904-9.

 

Dysosteosclerosis (DSS) is the form of osteopetrosis distinguished by the presence of skin findings such as red-violet macular atrophy, platyspondyly and metaphyseal osteosclerosis with relative radiolucency of widened diaphyses. At the histopathological level, there is a paucity ...

Last Updated: 26 Oct 2012

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Dysosteosclerosis: a report of three new cases and evolution of the radiological findings.
 

Author(s): N H Elçioglu, A Vellodi, C M Hall

Journal: J. Med. Genet.. 2002 Aug;39(8):603-7.

 

Last Updated: 5 Aug 2002

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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 "Dysosteosclerosis" returned 1 free, full-text review articles on human participants. First 3 results:

Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.
 

Author(s): Michael P Whyte, Deborah Wenkert, William H McAlister, Deborah V Novack, Angie R Nenninger, Xiafang Zhang, Margaret Huskey, Steven Mumm

Journal: J. Bone Miner. Res.. 2010 Nov;25(11):2527-39.

 

Dysosteosclerosis (DSS), an extremely rare dense bone disease, features short stature and fractures and sometimes optic atrophy, cranial nerve palsy, developmental delay, and failure of tooth eruption in infancy or early childhood consistent with osteopetrosis (OPT). Bone histology ...

Last Updated: 27 Oct 2010

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Symptoms, Diagnosis, and Treatment

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