ORBi: Kaux Jean-François - Le cas clinique du mois. Osteogenesis imperfecta

Reference : Le cas clinique du mois. Osteogenesis imperfecta


	Document type :	Scientific journals : Article
	Discipline(s) :	Human health sciences : Rheumatology Human health sciences : Pediatrics Human health sciences : Orthopedics, rehabilitation & sports medicine
	To cite this reference:	http://hdl.handle.net/2268/5911

Title :	Le cas clinique du mois. Osteogenesis imperfecta
Language :	French
Alternative title :	[en] Clinical case of the month. Osteogenesis imperfecta
Author, co-author :	Kaux, Jean-François [Université de Liège - ULg > Département des sciences de la motricité > Médecine physique et réadaptation fonctionnelle >]
	Le Goff, Caroline [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Département des sciences biomédicales et précliniques >]
	Debray, François-Guillaume [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
	Crielaard, Jean-Michel [Université de Liège - ULg > Département des sciences de la motricité > Evaluation et entraînement des aptitudes physiques - Médecine physique et réadaptation fonctionnelle >]
	Reginster, Jean-Yves [Université de Liège - ULg > Département des sciences de la santé publique > Epidémiologie et santé publique >]
Publication date :	Jan-2009
Journal title :	Revue Médicale de Liège
Publisher :	Hopital de Baviere
Audience :	National
ISSN :	0370-629X
City :	Liège
Country :	Belgique
Keywords :	[en] Osteogenesis imperfecta ; Multiple fractures ; Osteoporosis ; Bisphosphonate
Abstract :	[en] We report the case of a young boy who had had multiple bone fractures (more than 10) since the age of 19 months. The father had the same clinical history. The clinical examination was normal for his age except blue sclera. The bone densitometry showed a severe osteoporosis for his age. Biological exam swere correct. The genetic exploration revealed mutation of COL1A2 gene. With this clinical history, the diagnosis of Osteogenesis imperfecta (OI) was retained. OI is a hereditary dystrophy with abnormal synthesis or metabolism of collagen with, often, mutation of COL1A1 or COL1A2 genes. There are 7 different forms. We consider the possible differential diagnoses. The goal of any treatment is to promote bone remineralisation and to decrease the fracture frequency. The treatment includes calcium and vitamin D, and in the presence of some precise criteria, biphosphonate therapy.
Target :	Professionals ; Students
Permalink :	http://hdl.handle.net/2268/5911
Other URL :	http://www.rmlg.ulg.ac.be/index.php?page=listeArt?date=2009%20Jan&langue=FR

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Open access	Le cas clinique du mois. Osteogenesis imperfecta - RMLg janvier 2009.pdf		Author postprint	611.46 kB	View/Open

Additional material(s):

	File	Commentary	Version	Size	Access
Open access	Osteogenesis imperfecta - 25-01-2008.pdf		-	3.2 MB	View/Open

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