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Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.

Abstract:

Osteogenesis imperfecta (OI) type I is a hereditary disorder of connective tissue (HDCT) characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures from infancy. We present four examples of OI type I complicated by valvular heart disease and associated with tissue fragility. The diagnosis of a type I collagen disorder was confirmed by abnormal COL1A1 or COL1A2 gene sequencing. One patient was investigated with electrophoresi...

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Publisher copy:
10.1002/ajmg.a.36285

Authors


Vandersteen, AM More by this author
Ferguson, DJ More by this author
Pollitt, RC More by this author
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Journal:
American journal of medical genetics. Part A
Volume:
164A
Issue:
2
Pages:
386-391
Publication date:
2014-02-05
DOI:
EISSN:
1552-4833
ISSN:
1552-4825
URN:
uuid:9a2f44c4-88a0-4a1c-9cd6-b0210a652d60
Source identifiers:
448756
Local pid:
pubs:448756

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