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.
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 d...
Main Authors: | Vandersteen, A, Lund, A, Ferguson, D, Sawle, P, Pollitt, R, Holder, SE, Wakeling, E, Moat, N, Pope, F |
---|---|
Format: | Journal article |
Language: | English |
Published: |
2014
|
Similar Items
-
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
by: Vandersteen, A, et al.
Published: (2013) -
Fragile (2005): A case of osteogenesis imperfecta
by: Lucía Ruiz Rosendo
Published: (2008-10-01) -
An unusual presentation of osteogenesis imperfecta type I
by: Rebelo M, et al.
Published: (2011-04-01) -
Type I osteogenesis imperfecta: a case report
by: David Armando Guach Hevia, et al.
Published: (2022-02-01) -
Osteogenesis imperfecta is linked to both type I collagen structural genes.
by: Sykes, B, et al.
Published: (1986)