Publication
Title
Bruck syndrome: neonatal presentation and natural course in three patients
Author
Abstract
Three unrelated patients with congenital arthrogryposis and brittle bones, the main neonatal signs of Bruck syndrome, are presented. In infancy and early childhood recurrent fractures of ribs and long bones and persistent Wormian bones in the calvarium are, reminiscent of osteogenesis imperfecta (OI) even with white sclerae, normal dental quality and normal hearing as important clinical negatives. The diagnosis was made before two years of age in two, and in adolescence in the third patient. The latter's radiologically documented long-term natural course reveals slow progressivity of osteopenia and growth deficiency, worsening tendon contractures and pterygia in addition to increasing spine and pelvis deformation. Mental development remains normal. Bruck syndrome is monogenic and probably due to homozygosity of an as yet unidentifled gene. As no alteration in the collagens I and III is detected and molecular screening reveals no mutation in the COL1A1 and COL1A2 genes, the pathogenesis of this severe disorder of connective tissue remains largely unknown.
Language
English
Source (journal)
Pediatric radiology. - Berlin
Source (book)
3rd International Skeletal Dysplasia Conference, AUG 07-09, 1997, LOS ANGELES, CALIFORNIA
Publication
New york : Springer verlag , 1998
ISSN
0301-0449
Volume/pages
28 :10 (1998) , p. 781-789
ISI
000076745900009
Full text (Publisher's DOI)
UAntwerpen
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 05.11.2018
Last edited 04.09.2021