Jansen Type Metaphyseal Chondrodysplasia-A Rare Presentation
Journal Title: Journal of Medical Science And clinical Research - Year 2015, Vol 3, Issue 12
Abstract
Metaphyseal chondrodysplasia previously known as metaphyseal dysostosis, is a rare autosomal dominant disorder of endochondral ossification, characterized by accumulation of cartilage in various skeletal sites, specifically metaphysis of tubular bones(1). Clinical diagnosis is made on the basis of short stature with bowing of the legs in newborn period or early infancy. There is marked widening of the joints with contractures. Striking radiological changes include expanded and cup shaped metaphysis with normal epiphysis and diaphysis(2), Half the number of the cases may have hypercalcemia and hypophosphatemia(3,4). This entity may simulate rickets refractory to vitamin D, renal tubular acidosis, renal osteodystrophy, hyperpara-thyroidism or hypophosphatasia(5).We report a 1 year old female with complain of history of birth at 32 weeks gestation presented with early onset of multiple bony deformities. Her birth weight was 2.5 kilograms. Nasogastric feeding was given for the initial few weeks of her life. Widening of wrists, knees and ankle joints, and chest deformities were noticed at the age of one month. Despite the administration of calcium and vitamin D her deformities worsened. There was no history of parental consanguinity or family history of metabolic bone disease
Authors and Affiliations
Dr Abir Lal Nath
Keywords
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