✦ LIBER ✦

Osteogenesis imperfecta with congenital joint contractures (Bruck Syndrome)

✍ Scribed by Denis Viljoen; Gerry Versfeld; Peter Beighton

Book ID: 115089920
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 467 KB
Volume: 36
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1989.tb03174.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Defective collagen fibril formation and

Defective collagen fibril formation and mineralization in osteogenesis imperfecta with congenital joint contractures (Bruck syndrome)

✍ R. E. Brenner; U. Vetter; H. Stöss; P. K. Müller; W. M. Teller 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 930 KB

Bruck syndrome (osteogenesis imperfecta

Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): Review and report on the first North American case

✍ McPherson, Elizabeth; Clemens, Michele 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 762 KB

We describe a patient who was born with flexion contractures and pterygia at the elbows, clubfeet, torticollis, and several rib fractures. During infancy and childhood, multiple fractures of the lower limbs occurred with minimal trauma and led to disabling deformities. When evaluated at age 19 years

Osteogenesis imperfecta with joint contr

Osteogenesis imperfecta with joint contractures: Bruck syndrome

✍ M. F. Blacksin; Beth A. Pletcher; Miriam David 📂 Article 📅 1998 🏛 Springer-Verlag 🌐 English ⚖ 454 KB

Bruck syndrome: congenital joint contrac

Bruck syndrome: congenital joint contractures with bone fragility

✍ Lipalo Mokete; Anthony Robertson; Denis Viljoen; Peter Beighton 📂 Article 📅 2005 🏛 Springer Japan 🌐 English ⚖ 255 KB

Phenotypic and molecular characterizatio

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2

✍ Russia Ha-Vinh; Yasemin Alanay; Ruud A. Bank; Ana Belinda Campos-Xavier; Andreas 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 154 KB 👁 2 views

Mutations in FKBP10 cause recessive oste

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

✍ Brian P Kelley; Fransiska Malfait; Luisa Bonafe; Dustin Baldridge; Erica Homan; 📂 Article 📅 2011 🏛 American Society for Bone and Mineral Research 🌐 English ⚖ 235 KB

Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue characterized by bone fragility and alteration in synthesis and posttranslational modification of type I collagen. Autosomal dominant OI is caused by mutations in the genes (__COL1A1__ or __COL1A2__) encoding the chains of type