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

✍ Scribed by R. E. Brenner; U. Vetter; H. Stöss; P. K. Müller; W. M. Teller


Book ID
105411767
Publisher
Springer
Year
1993
Tongue
English
Weight
930 KB
Volume
152
Category
Article
ISSN
0340-6997

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Bruck syndrome (osteogenesis imperfecta
✍ 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