Universität zu Köln

Hoyer-Kuhn, Heike, Netzer, Christian and Semler, Oliver ORCID: 0000-0003-0029-7556 (2015). Osteogenesis imperfecta: pathophysiology and treatment. Wien. Med. Wochenschr., 165 (13-14). S. 278 - 285. WIEN: SPRINGER WIEN. ISSN 1563-258X

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Abstract

Osteogenesis imperfecta is a rare hereditary disease mostly caused by mutations impairing collagen synthesis and modification. Recently recessive forms have been described influencing differentiation and activity of osteoblasts and osteoclasts. Most prominent signs are fractures due to low traumata and deformities of long bones and vertebrae. Additional patients can be affected by dwarfism, scoliosis Dentinogenesis imperfecta, deafness and a blueish discoloration of the sclera. During childhood state of the art medical treatment are i.v. bisphosphonates to increase bone mass and to reduce fracture rate. Surgical interventions are needed to treat fractures, to correct deformities and should always be accompanied by physiotherapeutic and rehabilitative interventions.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Hoyer-Kuhn, Heike UNSPECIFIED UNSPECIFIED UNSPECIFIED Netzer, Christian UNSPECIFIED UNSPECIFIED UNSPECIFIED Semler, Oliver UNSPECIFIED orcid.org/0000-0003-0029-7556 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-399376
DOI:	10.1007/s10354-015-0361-x
Journal or Publication Title:	Wien. Med. Wochenschr.
Volume:	165
Number:	13-14
Page Range:	S. 278 - 285
Date:	2015
Publisher:	SPRINGER WIEN
Place of Publication:	WIEN
ISSN:	1563-258X
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language TERIPARATIDE TREATMENT; CHILDREN; PAMIDRONATE; MUTATION; EXPERIENCE; SCOLIOSIS; 5'-UTR Multiple languages Medicine, General & Internal Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/39937