Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review

The ‘vanishing bone’ syndrome multicentric osteolysis with nodulosis and arthropathy (MONA) is a rare chronic skeleton disorder caused by matrix metalloproteinase 2 (MMP2) deficiency, mimicking erosive polyarticular juvenile idiopathic arthritis. MONA is characterised by facial dysmorphism, subcutan...

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Veröffentlicht in:	European journal of pediatrics 2013-12, Vol.172 (12), p.1657-1663
Hauptverfasser:	Castberg, Filip Christian, Kjaergaard, Susanne, Mosig, Rebecca A., Lobl, Mollie, Martignetti, Chiara, Martignetti, John A., Myrup, Charlotte, Zak, Marek
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Age Antirheumatic Agents - therapeutic use Arthritis Arthritis, Juvenile - diagnosis Bones Case reports Child, Preschool Congenital diseases Coronary vessels Diagnosis, Differential Disease Progression Hajdu-Cheney Syndrome - diagnosis Hajdu-Cheney Syndrome - drug therapy Heart Heart Defects, Congenital - diagnosis Heart Defects, Congenital - genetics Humans Literature reviews Male Matrix Metalloproteinase 2 - analysis Matrix Metalloproteinase 2 - deficiency Matrix Metalloproteinase 2 - genetics Medicine Medicine & Public Health Mutation Mutation, Missense Original Article Pediatrics Sequence Analysis, DNA X-rays
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