Universität zu Köln

Semler, O., Hoyer-Kuhn, H. and Netzer, C. (2012). Osteogenesis imperfecta. Med. Genet., 24 (4). S. 297 - 312. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490

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Abstract

Osteogenesis imperfecta (OI) is the most frequently occurring congenital disorder with an increased fracture rate and systemic skeletal involvement. The vast majority of patients have an autosomal dominant form of OI resulting from a mutation in one of the two type I collagen genes COL1A1 or COL1A2. Since 2006, eight genes for autosomal recessive forms of the disorder have been identified, as well as one additional gene for autosomal dominant OI. Our knowledge concerning molecular pathophysiology has been substantially broadened, such that the paradigm of OI as a pure collagenopathy no longer applies and the clinical classification system will have to be revised. Standard therapy for the more severe forms of OI comprises intravenous administration of bisphosphonates. Additional elements of a multimodal therapeutic concept include surgical intervention for bone deformities or fractures and physiotherapy.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Semler, O. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoyer-Kuhn, H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Netzer, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-477352
DOI:	10.1007/s11825-012-0358-4
Journal or Publication Title:	Med. Genet.
Volume:	24
Number:	4
Page Range:	S. 297 - 312
Date:	2012
Publisher:	SPRINGER HEIDELBERG
Place of Publication:	HEIDELBERG
ISSN:	1863-5490
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language CHILDREN; PAMIDRONATE; ADOLESCENTS; MUTATION; COLLAGEN; 5'-UTR Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/47735