syndromes with congenital brittle bones综合征先天性骨质疏松.pdfVIP

BMC Pediatrics BioMed Central Debate Open Access Syndromes with congenital brittle bones Horacio Plotkin* Address: Inherited Metabolic Diseases Section, Department of Pediatrics, University of Nebraska Medical Center, And Childrens Hospital, Omaha, Nebraska, USA Email: Horacio Plotkin* - hplotkin@ * Corresponding author Published: 31 August 2004 Received: 18 May 2004 Accepted: 31 August 2004 BMC Pediatrics 2004, 4:16 doi:10.1186/1471-2431-4-16 This article is available from: /1471-2431/4/16 © 2004 Plotkin; licensee BioMed Central Ltd. This is an open-access article distributed under the terms of the Creative Commons Attribution License (/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. classificationosteogenesis imperfectabrittle bonescongenital Abstract Background: There is no clear definition of osteogenesis imperfecta (OI). The most widely used classification of OI divides the disease in four types, although it has been suggested that there may be at least 12 forms of OI. These forms have been named with numbers, eponyms or descriptive names. Some of these syndromes can actually be considered congenital forms of brittle bones resembling OI (SROI). Discussion: A review of different syndromes with congenital brittle bones published in the literature is presented. Syndromes are classified in OI (those secondary to mutations in the