BRUCK-SYNDROME - NEONATAL PRESENTATION AND NATURAL COURSE IN 3 PATIENTS

Three unrelated patients with congenital arthrogryposis and brittle bo nes, the main neonatal signs of Bruck syndrome, are presented. In infa ncy and early childhood recurrent fractures of ribs and long bones and persistent Wormian bones in the calvarium are, reminiscent of osteoge nesis imperfecta (OI) even with white sclerae, normal dental quality a nd normal hearing as important clinical negatives. The diagnosis was m ade before two years of age in two, and in adolescence in the third pa tient. The latter's radiologically documented long-term natural course reveals slow progressivity of osteopenia and growth deficiency, worse ning tendon contractures and pterygia in addition to increasing spine and pelvis deformation. Mental development remains normal. Bruck syndr ome is monogenic and probably due to homozygosity of an as yet unident ifled gene. As no alteration in the collagens I and III is detected an d molecular screening reveals no mutation in the COL1A1 and COL1A2 gen es, the pathogenesis of this severe disorder of connective tissue rema ins largely unknown.