Article
[GACI syndrome: a case report with a neonatal beginning].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Jun 2014
Freychet C, Gay C, Lavocat M-P, Teyssier G, Patural H, Bacchetta J, Cottalorda J, Meunier B Bader, Linglart A, Baujat G, Stephan J-L
Abstract excerpt
GACI (generalized arterial calcification of infancy) is a rare autosomal recessive disorder characterized by arterial and periarticular calcifications. Most children die in the first months of life of cardiovascular complications. Hypophosphatemic rickets (HR) resistant to medical treatment may complete the phenotype and is associated with a milder phenotype. This report discusses the case of a girl who presented...
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